Genetic Testing
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Genetic Testing

Advanced screening for genetic conditions

About Genetic Testing

Genetic testing during pregnancy provides valuable information about your baby's health. Garden OB/GYN offers a range of prenatal genetic screening and diagnostic tests to help you understand your baby's risk for chromosomal conditions and inherited disorders. Our providers and genetic counselors guide you through your options, explain results clearly, and support your decisions every step of the way.

What to Expect

Genetic testing options include non-invasive prenatal testing (NIPT) through a simple blood draw, first-trimester screening with blood work and ultrasound, and diagnostic procedures such as amniocentesis or chorionic villus sampling (CVS) when indicated. Testing is optional and your provider will discuss which tests may be appropriate based on your age, family history, and preferences. Results are typically available within 1-2 weeks.

Who Is This For?

Genetic testing is available to all pregnant women and is especially recommended for women over 35, those with a family history of genetic conditions, couples who are known carriers of genetic disorders, and women with abnormal screening results.

Frequently Asked Questions

Is genetic testing required?
No, genetic testing is entirely optional. Your provider will present the options and help you make an informed decision based on your preferences and risk factors.
What is NIPT?
Non-invasive prenatal testing (NIPT) is a blood test that screens for common chromosomal conditions like Down syndrome with high accuracy, using a simple blood draw from the mother.
When is genetic testing done?
First-trimester screening is done between weeks 10-13. NIPT can be performed as early as week 10. Amniocentesis is typically performed between weeks 15-20.
Are the tests covered by insurance?
Most insurance plans cover genetic screening, especially for women over 35 or with risk factors. We recommend verifying coverage with your insurance provider.
What is the difference between NIPT, CVS, and amniocentesis?
These tests fall into two categories. NIPT (non-invasive prenatal testing) is a screening test done from a maternal blood draw as early as 10 weeks. It looks at fragments of fetal DNA in your blood and is highly accurate for common chromosomal conditions like Down syndrome (trisomy 21), trisomy 18, and trisomy 13 — but it gives a probability, not a diagnosis. CVS (chorionic villus sampling) and amniocentesis are diagnostic tests that take a small sample of placental tissue (CVS, around 10-13 weeks) or amniotic fluid (amniocentesis, around 15-20 weeks) for chromosome analysis. They give a definitive answer and can detect more conditions than NIPT, but they carry a small procedure-related miscarriage risk (well under 1%). Most patients start with NIPT and only proceed to CVS or amniocentesis if a screen is positive or there is a known higher risk. Call (516) 663-6400 or schedule online to talk through which path fits your pregnancy.
What kinds of fetal anomalies can prenatal testing detect?
Prenatal testing screens for several different categories of conditions. Chromosomal aneuploidies — where there is an extra or missing chromosome — include Down syndrome, trisomy 18, trisomy 13, and sex-chromosome differences like Turner syndrome; these are well covered by NIPT and confirmed by CVS or amniocentesis. Open neural tube defects like spina bifida are typically picked up on the 18-20 week anatomy ultrasound, with a maternal blood marker (AFP) adding sensitivity. Structural anomalies of the heart, kidneys, brain, or limbs are also identified on the anatomy scan. Carrier screening (a separate blood test ideally done before or early in pregnancy) checks whether you and your partner carry recessive conditions like cystic fibrosis or sickle cell. No test catches everything, and your provider will help you understand what each one can and cannot tell you. Schedule online or call (516) 663-6400 for a personalized plan.

Schedule an Appointment

Our board-certified providers are ready to help. Book online or call us today.

Book Your Appointment(516) 663-6400

Available at our locations:

Garden City · Brooklyn · Commack · Queens · Lake Success · Massapequa · Manhattan · Cedarhurst

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Take the Next Step

Schedule your genetic testing appointment with Garden OB/GYN today.

Book Your Appointment(516) 663-6400