Non-Invasive Prenatal Testing (NIPT) detects certain specific chromosomal abnormalities in a developing baby. Also known as Non-Invasive Prenatal Diagnosis (NIPD), it uses cell free fetal DNA from the plasma of pregnant women offering tremendous potential as a screening tool for fetal aneuploidy.
What is NIPT?
It is a sophisticated blood test that examines fetal DNA in the maternal bloodstream to determine whether your baby is at risk of Down syndrome, extra sequences of chromosome 13 (trisomy 13), extra sequences of chromosome 18 (trisomy 18) or a sex chromosome abnormality, such as Turner syndrome. This form of prenatal testing can also be used to determine a baby's sex and rhesus (Rh) blood type. NIPT however doesn't screen for all chromosomal or genetic conditions.
When is NIPT recommended?
• You have risk factors for having a baby who has a chromosomal condition
• You are a carrier of an X-linked recessive disorder
• You have an Rh negative blood type
• Maternal age 35 years or older at delivery
• Fetal ultrasonography findings indicating an increased risk of aneuploidy
• History of a prior pregnancy with a trisomy
• Positive test result for aneuploidy, including first trimester, sequential, or integrated
screen, or a quadruple screen
• Parental balanced robertsonian translocation with increased risk of fetal trisomy 13 or
Why have NIPT?
It is up to you to decide whether or not you want to have NIPT. The American College of
Obstetricians and Gynecologists has recommended that women, regardless of maternal
age, be offered prenatal assessment for aneuploidy either by screening or invasive prenatal
diagnosis regardless of maternal age. However, it is currently available only for women
who have certain risk factors. Early identification of risks leads to informed decisions and
preparation for the future as well as better prenatal care. It is important to understand that
not all mothers who are recommended for NIPT have babies with chromosomal defects.
Dr. Jorge L. Gomez earned his Medical Degree in 1990 at Central Del Caribe University in Bayamon, Puerto Rico. Following residency in Obstetrics and Gynecology at Bronx-Lebanon Hospital center in the Bronx, NY (1990–1994), he completed additional fellowship training at New York University Medical Center NY, specializing in Maternal Fetal Medicine (1994-1996). After his fellowship in 1996 he joined South Florida Perinatal Medicine. Dr. Gomez is Board certified in OBGYN and Maternal Fetal Medicine. From 2003–2007 He was a reviewer for the American Journal Of Obstetrics and Gynecology.