Accurate fetal sex determination from maternal blood at 8 weeks gestation

Article by: Justine Casanova, Sarah Cacia, Haley Milot, Chris Jacob

Gateway Genomics, San Diego, California, USA

Correspondence: Justine Casanova Gateway 

Genomics, San Diego, California, USA, Email

Published: July 08, 2019

Background: Prior studies have shown that SneakPeek® Early Gender Test can accurately determine fetal sex as early as 9 weeks gestation using a qPCR-based assay. The purpose of this study was to evaluate the clinical performance of SneakPeek® for noninvasive prenatal testing (NIPT) to determine fetal sex at an earlier time point: 8 weeks gestation.

Methods: A multicenter blinded study was conducted at five ultrasound clinics. Maternal blood samples were collected from 108 pregnant women between 7.00 and 10.57 weeks of gestation. Plasma was separated from whole blood by centrifugation. A commercial DNA extraction kit (MagMAX® Cell-Free DNA Isolation Kit) was used to isolate circulating cell-free DNA from maternal plasma. Real-time quantitative PCR was used to detect fetal DNA using a multi-copy sequence on the Y-chromosome. Total cell-free DNA (maternal and fetal circulating free DNA) was measured using an autosomal control gene.

Results: Male Y-chromosome DNA was detected in all samples from women carrying a male fetus. SneakPeek® correctly identified fetal sex in 107 of 108 pregnancies. Four of the 108 samples initially yielded an inconclusive result. A second sample was collected from the four participants and a result was obtained on the second round of testing. Fetal sex for all samples were unknown prior to genetic testing and confirmed through a sonogram. In this study, SneakPeek® accuracy, sensitivity, and specificity were 99.1%, 100%, and 98.2% for fetal sex identification, respectively.

Conclusion: This study showed that SneakPeek® Early Gender Test is highly accurate for fetal sex determination in pregnancy as early as 8 weeks gestation.

Keywords: sneak peek, NIPT, early gender test, pregnancy, fetal sex, maternal blood, maternal plasma, cell-free fetal DNA

Introduction

Early sex determination has evolved from invasive techniques such chorionic villus sampling and amniocentesis to noninvasive prenatal testing through the analysis of cell-free fetal DNA (cffDNA).1 The detection of cffDNA in maternal plasma and serum was first described by Dr. Y M Dennis Lo in 1997. The identification of fetal DNA in maternal blood paved the way for subsequent analysis of fetal DNA for non-invasive prenatal diagnosis.2 Since its discovery, several studies have shown detectable amounts of cffDNA in maternal circulation as early as 5 weeks gestation, with testing becoming more reliable after 7 weeks gestation.3 cffDNA represents about 10% of the total cell-free DNA in maternal plasma at 11–13 week’s gestation.4Multiple studies have demonstrated the use of maternal plasma DNA for fetal sex determination.5 These studies utilized Y-chromosome target sequences, with varying reported results for specificity and sensitivity.6 Studies that utilized a single copy gene (e.g., sex determining -SRY) resulted in high specificity but lower sensitivity for fetal sex, while requiring a large volume of maternal blood (e.g., 10mL).7 On the other hand, studies that utilized a multicopy target sequences on the Y-chromosome (e.g., DYS14) resulted in greater sensitivity but lower specificity while requiring significantly lesser volume (e.g., 100μL) of maternal blood.8

There are several methods for determining fetal sex during pregnancy. Sonography is still one of the most common methods used for determining fetal sex. In general, anatomy scans are not performed until 18 to 20 weeks gestation and not highly accurate prior to 12–13 weeks gestation. Traditional non-invasive prenatal testing (NIPT) can be used to determine fetal sex with high accuracy. However, NIPT tests are not intended to be used prior than 9 to 10 weeks gestation.9 Many pregnant women will present to an obstetrician prior to 9 weeks but will not have an option for learning fetal sex. Previous studies have demonstrated that the SneakPeek® Early Gender Test can determine fetal sex as early as 9 weeks with 99.6% accuracy. In this study, we sought to determine the accuracy of SneakPeek® Early Gender Test when performed as early as 8 weeks gestation.

Methods

One hundred and eight participants from five ultrasound clinics were enlisted for this study. All participants provided informed consent in accordance with the Declaration of Helsinki guidelines for human subjects. Fetal gestational age of participants ranged from 7.00–10.57 weeks at the time of sample collection. SneakPeek® test results were confirmed through subsequent sonographic evaluation after participants had reached at least 14 weeks gestation. Inclusion criteria were confirmed pregnancy, gestational age at least 7weeks, and agreed to return to ultrasound clinic to confirm gender through sonographic evaluation. Exclusion criteria were a refusal to give informed consent or any miscarriage within the last 3months.

At the time of sample collection, 3–4mL of maternal blood was drawn from all participants by standard venipuncture. Blood samples were sent to the SneakPeek® lab where 600μL of the collected sample was then centrifuged at 1,600 g for 15 minutes to separate plasma from whole blood. Next, 100μL of the separated plasma was incubated with 20μL of Proteinase K to help degrade any proteins that may have been bound to the DNA. Following proteinase K treatment, cfDNA was isolated from the plasma samples using the MagMAX® Cell-Free DNA Isolation Kit (ThermoFisher) according to the manufacturer’s instructions. Real-time quantitative polymerase chain reaction was utilized to detect male cell-free fetal DNA as follows. Isolated cellfree DNA (5ul) was dispensed into 96-well plates and reacted with a custom master mix for a final PCR reaction volume of 25ul per well. Male cell-free DNA was detected using a multi-copy target sequence on the Y-Chromosome. An autosomal control gene was detected to confirm that a sufficient amount of total cfDNA (maternal and fetal) was isolated from the sample. The cycling conditions for the PCR were set at 10 min at 95ºC to allow for the initial denaturation of DNA and polymerase activation, followed by 45cycles of one minute at 60ºC and 15seconds at 95ºC. An algorithm that incorporated the cycle threshold (CT) value of the Y-target sequence and autosomal control gene PCR reactions was utilized to determine fetal sex. The results of the SneakPeek® assay were confirmed through sonographic evaluation at the conclusion of the study.

 Results

One hundred and eight pregnant women from five ultrasound clinics participated in this study. At time of collection, the gestational age of all pregnant women ranged from 7.00 to 10.57 weeks with a median of 8.43 weeks and an average of 8.44 weeks (Table 1). Fetal sex was determined for all 108 participants. In this study, there were 51 male bearing pregnancies and 57 female bearing pregnancies. SneakPeek® correctly identified all 51 male bearing pregnancies, demonstrating 100% sensitivity for Y-chromosome DNA detection. There were 0 false negatives resulting in a positive predictive value of 100%. SneakPeek® correctly identified 56 of 57 female bearing pregnancies. There was one false positive resulting in a negative predictive value of 98%. Four of the 108 samples initially yielded an inconclusive result. A second sample was collected from the four participants and a result was obtained on the second round of testing (Table 2).

Table 1 Gestational age of the 108 participants

Gestational age

Range (week) 7.00 – 10.57

Median (week) 8.43

Mean (week) 8.44

 

Table 2 Statistical parameters of the study

Number of participants 108

Samples Analyzed 112

Female Fetuses 56

Male Fetuses 51

False Positives 1

False Negative 0

Inconclusive Results 4 (3.7%)

Sensitivity 100 %

Specificity 98.2 %

Accuracy 99.1 %

Positive Predictive Value 100 %

Negative Predictive Value 98.2 %

 

Figure 1 illustrates the average CT values for the Y-chromosome target sequence. The average CT value for the Y-target sequence for plasma from male bearing pregnancies was 29.89 ranging from 28.09-32.03. Figure 2 illustrates the average CT values for the autosomal control gene (a measure of total maternal and fetal cfDNA). Total cfDNA for both male bearing pregnancies and female bearing pregnancies were comparable. The average CT value for total DNA in male bearing pregnancies was 32.81, with a range of 31.13-34.63. The average CT value for the female bearing pregnancies was 32.93, with a range of 29.97-35.15.

Discussion and conclusion

Previously, SneakPeek® Early Gender Test was shown to be 99.6% accurate for determining fetal sex as early as 9 weeks gestation.10 In this study, the SneakPeek® Early Gender Test was shown to be 99.1% accurate for fetal sex determination at 8 weeks gestation and 100% sensitive for male fetal cell-free DNA. This study demonstrates that SneakPeek® can accurately determine fetal sex as early as 8 weeks gestation using a microvolume amount of maternal plasma. Using a real-time quantitative polymerase chain reaction, we utilized a multicopyY-chromosome target sequence alongside an autosomal control gene to measure male fetal DNA and confirm sufficient total DNA was recovered, respectively. We accurately determined fetal sex using an algorithm that integrates the CT values for both the Y-target sequence and the autosomal control gene. The average CT values for the Y-chromosome target in plasma samples from male bearing pregnancies were significantly lower than the average CT values obtained from plasma from female bearing pregnancies (Figure 1). CT values for the autosomal control gene were similar for plasma samples from both male bearing pregnancies and female bearing pregnancies. All gender results were confirmed by a licensed sonographer via ultrasound. There was one false positive and no false negatives. The false positive detection of the Y-Chromosome target sequence could be due to a number of reasons. One reason is that the blood sample could have been contaminated. Another reason could be due to fetal DNA from a previous male pregnancy still lingering in the maternal cfDNA. Most likely, reason is due to a vanishing twin, where the XY chromosome detected could be assumed from the disappearing twin.11 The lack of any false negative results in this study suggests that there is sufficient cell-free fetal DNA present in maternal circulation as early as eight weeks gestation for fetal sex determination. Although there are ethical concerns that should be considered when using non-invasive fetal diagnosis for fetal sex determination, a large number of benefits have been reported. 12,13For example, knowledge of fetal gender in early pregnancy is clinically indicated if sex-linked genetic disorders are present.Further, Lewis et al. reported significant benefits of early sex determination for expectant mothers including several psychological advantages (perceived control, early reengagement, normalization of pregnancy and peace of mind). Additional studies should be conducted to determine whether noninvasive prenatal diagnosis can be performed at earlier timepoints in pregnancy. 14

Acknowledgements

Amanda Adcock, Apryl Norris, Brittany Ratkovic, DinorahAlvarez, and Sara Gamache provided outpatient sonography services for this study. SneakPeek® is a registered trademark of Gateway

Genomics, LLC.

Conflicts of interest

The author declares there are no conflicts of interest.

 

References

1. D’Aversa E, Breveglieri G, Pellegatti P, et al. Non-invasive fetal sex

diagnosis in plasma of early weeks pregnants using droplet digital PCR.

Molecular Medicine. 2018;5:24.

2. Lo YM, Corbetta N, Chamberlain PF, al. Presence of fetal DNA in

maternal plasma and serum. Lancet. 1997;350(9076):485–487.

3. Everett TR, Chitty LS. Cell-free fetal DNA: The new tool in fetal

medicine. Ultrasound Obstet Gynecol. 2015;45(5):499–507.

4. Ashoor G, Syngelaki A, Poon LCY, et al. Fetal fraction in maternal

plasma cell-free DNA at 11-13 weeks’ gestation: Relation to maternal

and fetal characteristics. Ultrasound Obstet Gynecol. 2013;41(1):26–32.

5. Aragones AB, Gonzalez C, De Alba MR, et al. Noninvasive prenatal

diagnosis using ccffDNA in maternal blood: State of the art. Expert Rev

Mol Diagn. 2010;0(2):197–205.

6. Johnson KL, Dukes KA, Vidaver J, et al. Inter laboratory comparison

of fetal male DNA detection from common maternal plasma samples by

real-time PCR. Clin Chem. 2004;50(3):516–521.

7. Lim J, Park S, Kim S, et al. Effective detection of fetal sex using

circulating fetal DNA in first-trimester maternal plasma. FASEB J.

2012;26(1):250–258.

8. Zimmermann B, EL-Sheikhah A, Nicolaides K, et al. Optimized realtime

quantitative PCR measurement of male fetal DNA in maternal

plasma. Clin Chem. 2005;51(9):1598–1604.

9. Rahman H. Non-invasive prenatal diagnosis using cell free fetal DNA

in maternal blood: Current efforts and future perspectives. J Obstet

Gynaecol Barpeta. 2014;1:70–77.

10. Primacio R, Milot H, Jacob C. Early Fetal Sex Determination using Cell-

Free DNA in Micro-Volume of Maternal Plasma. J Preg Child Health.

2017;4:358.

11. Newson A. Ethical aspects arising from non-invasive fetal diagnosis.

Semin Fetal Neonatal Med. 2008;13(2):103–108.

12. Lewis C, Hill M, Skirton H, et al. Non-invasive prenatal diagnosis for

fetal sex determination: benefits and disadvantages from the service

users’ perspective. Eur J Hum Genet. 2012;20(11):1127–1133.

13. Kelley J, Henning G, Ambrose A, et al. Vanished Twins and Misdiagnosed

Sex: A Case Report with Implications in Prenatal Counseling Using

Noninvasive Cell-Free DNA Screening. J Am Board Fam Med.

2016;29:411–413.

14. Hyett JA, Gardener G, Mikic TS, et al. Reduction in diagnostic and

therapeutic interventions by non-invasive determination of fetal sex in

early pregnancy. Prenat Diagn. 2005;25(12):1111–1116.

 

Citation: Casanova J, Cacia S, Milot H, et al. Accurate fetal sex determination from maternal blood at 8 weeks gestation. Int J Pregn & Chi Birth.

2019;5(4):135‒137. DOI: 10.15406/ipcb.2019.05.00164

 

Exercise and Pregnancy

When you first learn that you are pregnant, hundreds of questions come to mind about how to maintain a healthy pregnancy. Some of these questions relate to the safety, types and frequency of exercise permitted during pregnancy. 

Most obstetricians follow the guideline that if you were active prior to your pregnancy, you may continue such activities while pregnant. This rule of thumb applies so long as your pregnancy is complication free. Your OB doctor will also likely mention that if any of these activities begin to cause you discomfort, you should stop doing them. Modifications are key. There will be plenty of time to get back in to the hard core stuff after your delivery. These next 40 weeks aren’t the time to strive for weight loss. Be sure to discuss any plans for a new exercise regime with your obstetrician. They may have some great advice on how to implement something new and can provide insight for any exercise styles that should be delayed until after giving birth. If you have a high-risk pregnancy or are at risk for pre term labor, exercise should be closely monitored.

While you aren’t trying to lose weight, you can aim to strengthen your body for your delivery. The muscles that you keep healthy now will help you through labor and delivery and, BONUS ALERT, they will even help you to shed some of the baby weight after birth. Let’s not get too hung up on losing baby weight, though. There should be more focus on just how amazing your body is; you just created life! 

Some of the studied health benefits of exercise during pregnancy include, reducing back pain, reducing swelling, mood improvement, an increase in energy, and improved sleep patterns. Exercise during pregnancy can even help prevent gestational diabetes. A connection people often don’t make is that exercise improves circulation, which in turn aides in avoiding constipation, hemorrhoids, varicose veins, and leg cramps! 

At your initial OB appointment, your doctor will go over a great deal of information with you. One of the topics of conversation will likely be what your expected weight gain should be. For women with BMIs within a normal range, the recommended weight gain during pregnancy should be 25-35 pounds. Exercising during pregnancy will help you to keep on track with this goal. 

This next bit is for the over achievers. I cannot emphasize enough how important it is to discuss your fitness plans with your obstetrician. Here’s why: During exercise, blood flow shifts away from your uterus to help support your hard working muscles and lungs. If you exercise too strenuously, you may restrict the oxygenated blood flow to your baby. In other words, let’s keep that heart rate in check so that baby can benefit from your workout too! Talk to your healthcare provider for guidelines on what is a safe exercise heartrate to maintain during pregnancy. 

Two other important considerations when it comes to exercise during pregnancy are balance and body temperature. It’s no surprise that the further you get in to pregnancy, the bigger your baby and therefore your belly will be. Avoid activities like bike riding that may put you at an increased risk for falling. We are in the home stretch here people! Something else that is easily forgotten about during pregnancy is body temperature. Be careful when working out in hot conditions. Your body temperature should stay below 101 degrees Fahrenheit. An increase in your body temperature can negatively affect your baby’s development! 

Thus far we have discussed many of the positive effects moms benefit from when they exercise during pregnancy. Recent research has shown that exercise during pregnancy benefits the baby on board too! 

A 2013 study published by researchers at the University of Montreal compared the cognitive development of two groups of babies. One half was born to moms who had at least 20 minutes of moderate-intensity cardiovascular exercise (think: walking or jogging) three days each week; the other, to moms who were sedentary. The researchers compared how the brains of both sets of babies responded to sound at one month of age, which is a measure of cognitive development. They found that babies born to the exercising mothers had more mature brain function – more advanced brains – than those born to the less active moms.”

In addition improving cognitive activity, studies have also shown that mom’s who exercise during pregnancy give birth to babies with healthier birth weights and better heart health! Two for one special! Who knew that maintaining a healthy exercise routine during pregnancy would actually give your baby a healthier start to his or her life?! 

Exercise during pregnancy has proven to be beneficial for both mom and baby and is likely to be encouraged in some way by your obstetrician. No matter what your current activity level is, it’s best to mention your plans or interest in exercise to your doctor so they can provide guidance for what is safest during your specific pregnancy. 

Whether you’re walking, running, weight-training or otherwise, we wish you the best on your pregnancy journey <3

 

sources:

https://americanpregnancy.org/pregnancy-health/effects-of-exercise-on-pregnancy/

https://americanpregnancy.org/pregnancy-health/exercise-during-pregnancy/

https://www.parents.com/pregnancy/my-body/fitness/why-pregnancy-workouts-build-better-babies/

The Difference Between 2D, 3D, 4D and HD Live Ultrasound

What exactly is Ultrasound?

Ultrasound is the use of high frequency sound waves to generate a picture based on the return echo of the tissue that is being imaged. This technology is very similar to radar. Ultrasound does not utilize radiation. Extensive studies over 30 years have found that ultrasound is safe. It has not been shown to cause any harm to mother or baby. Routine scanning of all pregnancies is now normal throughout the United States. In 3D/4D scanning, exactly the same type and intensity of ultrasound is used as with conventional 2D scanning. In terms of exposure, 3D, HD LIVE and 4D ultrasound will be similar to a diagnostic 2D scan with your doctor.

In 3D Ultrasound, the ultrasound probe sends out high frequency sound waves while the sonographer is scanning in 2D. The probe then receives the return echo after it has reverberated off of the structure being imaged. The 3D software within the ultrasound machine utilizes the information from the return echo to generate a 3D rendering of the structure of interest; i.e.: your baby’s face!

“What is HD Live Ultrasound,” you ask? HD Live takes that very same information collected during 3D rendering. The difference is that HD Live displays the image using a different, more life-like light source. HD Live images are made up of pink and flesh tone colors verses the sepia you will see with standard 3D ultrasound imaging. Certain details are visualized slightly differently from 3D to HD Live.

On to 4D Ultrasound! 4D ultrasound is 3D ultrasound updated in real time. 4D, therefore is basically a movie of your baby moving around in 3D! Ever heard of 5D? 5D ultrasound is simply 4D in HD Live technology!

Beautiful and clear 3D/4D images of your baby, especially baby’s face, are often seen on a third trimester ultrasound. Good 3D/4D imaging requires a co-operative baby and adequate amniotic fluid in front of the structure being imaged. Some babies press against the wall of the uterus or placenta, or they may have their arms or hands lying in front of the face. This will make obtaining 3D/4D images difficult. It is good for parents to anticipate seeing their growing baby, but not to be too disappointed if the 3D/4D images prove difficult or the images of baby’s face are impossible to get. Every effort will be made to obtain the highest quality pictures for you and your family to cherish for years to come!

Cape Cod Baby: Our Favorite Doula

Shannon, of Cape Cod Baby, has a wealth of experience when it comes to the childcare field. Over 25 years, but who’s counting!? She has helped to support countless families during this time. Her passion for helping women through pregnancy, childbirth and with postpartum care has made her the incredible doula that she is today.

Shannon is highly trained & certified and strives to bring families the best possible care during their pregnancy journey and beyond. She prides herself on her ability to serve women through this process in the manner that best suits their family. Shannon can provide the peace of mind that you are looking for and believes that she can meet your doula needs.

Shannon offers a variety of services including labor doula, postpartum doula (that’s right; continued care after the baby is born!), placenta encapsulation, and Bengkung Belly Binding (postpartum belly wrapping). Each of these services are incredible:

Labor Doula:

Cape Cod Baby’s labor doulas are available by phone or email from the time you sign your contract. You will have a one-hour prenatal visit to work on a birth plan. Whether you want natural, medicated, water birth or VBAC, you will be supported by your doula. At 37 weeks, your doula will be on-call 24/7. Once you go into labor, your doula will be there for the duration. She will work with both you and your partner. Once the baby arrives, your doula will stay for up to an hour to help with skin-to-skin and initial latching and feeding guidance. You will also have a one-hour follow up postpartum visit to discuss the birth, the baby and any additional questions you may have.

Postpartum Doula:

Once you bring your baby home and you begin to adjust to your new lifestyle, help may be needed. Cape Cod Baby can help with all aspects of infant care including but not limited to: breastfeeding, bottle feeding, bathing & soothing the baby. Postpartum care can also include meal prep, light cleaning, errands and personal care. A minimum of 4 hours is required for daytime and a minimum of 8 hours is required for overnights. Postpartum care can last as long as you feel you need it. Cape Cod Baby’s goal is to help you with everyday tasks and assist in setting up a daily routine for your new family.

Sibling support is also offered (care for your older children while mom is in labor) to help your growing family transition smoothly. 

Placenta Encapsulation:

The traditional method of encapsulation is based on Traditional Chinese Medicine (TMC). TMC is one of the oldest herbal systems in the world. This method includes steaming the placenta using lemon and ginger to infuse and dehydrate before grinding and encapsulating. The process will take place over two days in the client’s home. Cape Cod Baby’s goal is to process it in a clean and sanitized environment, with as little outside contamination as possible. The Postpartum Encapsulation Specialist will be in your home no longer than two hours each day.  Each placenta will yield between 75 – 250 capsules depending on the size of the placenta. Benefits include: improvement in postpartum mood, balance to post-birth hormones, improvement in lactation and recovery from birth. It should be noted that individual results may vary.

Bengkung Belly Binding:

Bengkung belly binding is the art of wrapping a postpartum woman’s belly to hasten the recovery process. 

Benefits can include:

  • Abdominal wall support helping to heal diastasis recti

  • Support the body’s natural spine and posture realignment post-birth

  • Reduction of water, fat and air in the tissue and cells through constant pressure on the torso

  • Stabilizes loose ligaments

  • Helps prevent and relieve lower back strain

  • Prevents slouching while holding your baby

  • Provides support while organs return to pre-pregnancy position

Cape Cod Baby also offers Bereavement Care. Learning of complications in your pregnancy and or losing your baby is an experience that no one anticipates. We can personally attest that Shannon offers amazing care in these heart wrenching situations.

“A bereavement doula is an expert in all things pregnancy loss, and can be your compass when you feel like you’re completely lost.” – Cape Cod Baby

Working with Shannon has provided us great insight in to what a wonderful person she is. Her passion for supporting women through pregnancy and thereafter is unmatched. She is truly dedicated to her work and we at Perfect Timing consider ourselves extremely fortunate to have her as our Doula partner and friend.

 

Perfect Timing & SneakPeek Clinical: DNA Gender Testing

WHO & HOW

We, at Perfect Timing Ultrasound, have partnered with Gateway Genomics to bring SneakPeek Clinical DNA Gender Determination to the South Shore of Massachusetts as well as Cape Cod. We are thrilled to be offering this exciting new service, and honored to be the first on the Massachusetts South Shore to do so! 

SneakPeek Clinical is a gender DNA detection test offered to women starting at 9 weeks in to pregnancy. The genetic test gives you the first step to connect with your baby before you are able to see the exciting, clear images from your ultrasoundscans. This clinical service includes an on-site phlebotomist that draws a blood sample in the comfort of the ultrasound suite. The sample is then returned to SneakPeek Labs for processing. The laboratories offer the fastest turnaround times in the industry, with a choice of receiving your result the same day the sample reaches the SneakPeek Lab!

SneakPeek’s early baby gender blood test utilizes the natural process of shared fetal DNA circulating inside the mother’s bloodstream. This technique is called Real-Time Polymerase Chain Reaction (RT-PCR). Our PCR technology has the ability to detect the presence or absence of male Y chromosome in the blood sample provided starting at 9 weeks into pregnancy. If it is detected then the baby’s gender is male and if it is not detected then the baby’s gender is female.

You are test ready at 9 weeks after the first day of your Last Menstrual Period (LMP) or 31 weeks before your Estimated Due Date (EDD). Use this calculator to determine the exact date that you will be eligible for the SneakPeek DNA Gender Test.

When?!?

To kick off this exciting new service, Perfect Timing Ultrasound is running a contest for a FREE SneakPeek DNA Gender Test on our Facebook page. There will be 3 winners for this contest, which will be announced Wednesday, January 9th 2019. Perfect Timing Ultrasound will be holding weekly SneakPeek Clinical events. Please follow us on Facebook for updates on dates/times! 

 

Accuracy

In controlled laboratory tests, SneakPeek detected shared male fetal DNA in >99% of blood samples from pregnant women carrying male fetuses at 9 weeks gestational age and later into pregnancy. Male fetal DNA was not detected in blood samples from pregnant women carrying female fetuses.

In a blinded multi-center study performed in 2015 with samples collected at four clinics, SneakPeek® showed an accuracy rate of 100% for fetal sex identification. The results of this study may be reviewed here.

The Journal of Pregnancy and Child Health published a research article about the SneakPeek Early Gender Test (Gateway Genomics). Entitled, “Early Fetal Sex Determination using Cell-Free DNA in Micro-Volume of Maternal Plasma,” the purpose of this study was to assess the clinical performance of SneakPeek for noninvasive prenatal testing (NIPT) of fetal sex.This blinded multicenter study showed that SneakPeek Early Gender Test is highly accurate for fetal sex determination in early pregnancy. This micro volume noninvasive prenatal test for early fetal sex determination could simplify the collection of maternal blood and increase the accessibility of NIPT to a broad population. Interested in reading more? This link will take you to the full article.

Some FAQs

I’m carrying multiples, can I still have the test!?

Yes, you can. If SneakPeek detects the presence of male DNA,then we can confirm at least one of the babies is male. If SneakPeek does not detect male DNA then we can confirm you are only having female babies.

Will a previous pregnancy carrying a male affect my test result?

A previous pregnancy carrying a male has no effect on the accuracy of our test.

What is the accuracy of SneakPeek® before 9 weeks?

The accuracy of SneakPeek earlier than 9 weeks into pregnancy has not been evaluated. The SneakPeek test should not be doneuntil you are 9 weeks pregnant. 

Will my sample degrade during shipping?

No, once samples are sealed in the collection tube they are preserved for shipment.

 

SneakPeek Clinical Pricing & Turnaround Times

SneakPeek FastTrack: (Next Day Results) $149.00

Results will be made available between 6pm-9pm Pacific Time the day the sample is received.

SneakPeek Standard: (Two – Three Day Results) $129.00

Results will be made available between 1pm-5pm Pacific Time the day after the sample is received.

 

Process at Perfect Timing Ultrasound

Perfect Timing will be holding weekly events for the SneakPeekDNA gender testing. We will be posting updates for dates and times on our Facebook Page, so be sure to like and follow us! 

When you arrive to our building; 6 Resnik Rd. in Plymouth, MA, we are located in suite 202 on the second floor. There is an elevator for your convenience and, after the restrooms, we are the first suite on your left. When you enter our office, we will have you check in with us at our reception desk. Your blood draw will take place in the comfort of our ultrasound room under the care of a licensed phlebotomist. The SneakPeekClinical test only requires a small amount of venous blood (3 mL) and will be collected using standard venipuncture procedure. Anticlotting precautions will be taken and a preservative injected to and mixed within the sealed tube to ensure that the sample does not degrade. The DNA sample will be marked with your information and shipped according to your selection; FastTrack or Standard. 

Please feel free to send us a message on Facebook or contact us.

 

References:

https://sneakpeektest.com/clinical-tab/

https://sneakpeektest.com/calculator/

https://m.facebook.com/PerfectTiming3D

https://sneakpeektest.com/our-studies-2015/

https://www.omicsonline.org/open-access/early-fetal-sex-determination-using-cellfree-dna-in-microvolume-of-maternal-plasma-2376-127X-1000358-96213.html

 

 

Baby G’s Surprising Début

My sister, Nikki, was due to give birth on 12/18/18. Our entire family was beyond excited to welcome her baby girl! My sister and her husband, Matt, had been going back and forth about names from the moment they found out they were having a girl. (Yes, we did their Gender Determination Ultrasound at Perfect Timing Ultrasound!) Because they couldn’t settle on a name, we took to calling her “Baby G.” Nikki had come to Perfect Timing on a few different occasions which enabled us to really appreciate Baby G’s development and even get some beautiful 3D images of her! This only enhanced my family’s anticipation! We just couldn’t wait to meet our new family member.

3D Ultrasound; 18 weeks, 4 days
3D Ultrasound, HD Live, 29 weeks, 5 days

Apparently, Baby G could feel us beckoning. Sixteen days before her due date, Nikki noticed that she hadn’t been feeling the baby move very much. This was a noticeable change as Baby G had been very active in utero. A decrease in fetal movement in the later stages of pregnancy can indicate that the baby is under stress. So, following the advice of our mom, Nikki called her Obstetrician’s office. They were concerned and did not want to take any unnecessary chances, so they directed Nikki to go to the hospital.

Once at Umass Memorial Medical Center, she underwent several tests to determine how Baby G was doing. The results weren’t great. They determined that the baby was ok but that Nikki had borderline low amniotic fluid, which is dangerous for the baby. Because of her gestational age of 38 weeks, decreased fetal movement, and low amniotic fluid volume, the doctors decided to induce Nikki. This was a shock to everyone. Nikki and Matt had not even brought the “Go Bag” with them to the hospital and had nothing that they would need for Nikki’s stay. 

Labor inductions typically take some time so Nikki thought it best to send Matt home for their things. They lived about 20 minutes or so from the hospital, so they figured this would be no problem. While he was gone, the doctors went forth with beginning the induction. They started with misoprostol, which did in fact initiate contractions. Nikki had texted our mother that “some small contractions” had started but that she was doing fine and to stay home because this will take a while. Nikki had said the same to me and even asked Matt to bring her work computer back to the hospital with him so that she could get some work done during the early stages of induction.

My knowledge of medically induced labor had me agreeing, “Okay, yeah this will probably take a day or so.” Most medical inductions are slow going, and somewhat uneventful. Most of the time, doctors carefully watch as labor slowly progresses in a controlled environment. Unfortunately, there are just some factors that the doctors cannot control. One of these factors is that low amniotic fluid levels result in compression of the umbilical cord. This is a dangerous situation for the baby as cord compression results in a lack of oxygen and affects the baby’s blood pressure and heart rate. 

Once Nikki’s contractions started, things got pretty intense. Out of nowhere, monitors started sounding, a code was called and a team of doctors and nurses rushed in to Nikki’s room. My poor sister was there alone, anticipating none of what was about to happen. Apparently, Baby G was not handling labor well. Despite the medical team’s efforts, her heart rate plummeted with every contraction. They rushed Nikki to the operating room, the surgeon calling Matt from Nikki’s cell phone on the way telling him he needed to get to the hospital ASAP because they needed to perform a c-section. Matt texted my mom, c-section” and rushed to the hospital. During that time the medical team had stabilized the baby’s heart rate and actually brought Nikki back to her room in the birthing unit. That didn’t last for long, though. A few minutes later, another code was called and Nikki was rushed to the operating room again. Once again, they were able to stabilize the baby’s heart rate. Thankfully, Matt had made it to the hospital and was there when the doctor told them that, “This baby is going to need a c-section. We are better off doing it now while we have her temporarily stabilized, than waiting and having to rush to save her life.” Nikki and Matt readily agreed and the c-section was performed. By the grace of God, everything went extremely well! The baby was delivered in good health and my sister made it through the surgery just fine.

My mother and I had raced up to Umass Memorial (in separate vehicles) as soon as we heard that Nikki was having a c-section. It was a long ride for both of us as no one knew why Nikki needed the c-section delivery. We didn’t know what was happening or which of them was in danger. All we knew was that we needed to get there. On my way up, I called my sister, Kayla, who lives in Arlington, Virginia as she is attending George Washington University. We kept each other company and just talked to pass the time. It was scary, but I was so thankful to have my sister to talk to during that long drive. When I was about 20 minutes out from the hospital we started receiving texts that the baby was here! I could see picture messages popping up on my phone and cried tears of relief and joy that my sister and the baby were okay. 

 

The first picture I glimpsed on my phone while in route to the hospital!
Side by sides of Addie and her 3D images from Perfect Timing Ultrasound
My son Wes with his Auntie Nikki and new cousin, Addie
Wes was very concerned about his Auntie Nikki!

Getting to meet Baby G was so incredible. I can’t accurately describe what it was like for me to experience becoming an Auntie for the first time. Nor am I able to put in to words how my heart ached with relief when I saw that my sister was okay with my own eyes. My heart raced with adrenaline for hours thereafter.

The night Addie was born!

Several hours following her birth, Baby G was still without a real name. My sister, who was somewhat doped up on pain medication, was blatantly harassing her husband to come up with names he liked. We were all giddy with relief and it was hilarious. My mom and I left the room for a few hours to give the new parents some time alone with their new baby girl. Later that morning we had name! They had decided on Addilyn Lee, Addie for short! We all absolutely loved it. I held my perfect little niece and told her, “Auntie loves you so much, Addie girl.” 

The next day, Nikki told us that a resident who had assisted during the scary ordeal of Addie’s induction and birth, stopped by her room. The resident told Nikki that they heard that Nikki and Matt had named the baby and she wanted to come by to see “miracle baby, Addie.” The resident explained how rare it is to call two codes on one baby and that Addie was in fact a miracle. Nikki explained that she didn’t realize until this conversation, that “they really could have lost her.” 

When you have a baby, everyone congratulates you. It’s just the cultural norm to do so. I’ve been thinking about it and there is so much behind that custom. People mostly mean it in the “how exciting!!” kind of way, but there’s more. Birth is truly a miracle. The congratulations we extend to new parents and their families encompasses all of the excitement as well as the knowledge that pregnancy doesn’t always have a happy ending. Addie is indeed a miracle and we are so fortunate for Nikki noticing the change in her baby’s movement. For my mom directing Nikki to call her OB. And for the wonderful care and expertise of all of the Umass Memorial Medical Center staff that ensured that my sister’s pregnancy would have a happy ending.

The new Mama and her baby girl

Perfect Timing Ultrasound

6 Resnik Road Suite 202,
Plymouth, MA 02360
Phone: 508-591-7956
Email: perfecttimingultrasound@gmail.com