136 Maple Rd. Williamsville, NY 14221
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phone: (716) 632-8124
fax: (716) 632-6801

Testing for Chromosome Abnormalities:
Chromosome abnormalities can occur in any pregnancy, but they occur more frequently in women over 35. The three most common chromosome abnormalities are Trisomy 21 (Down syndrome), Trisomy 18 and Trisomy 13. These tests can detect pregnancies more likely to be affected by chromosome abnormalities.
First Trimester Aneuploidy Screen
Cell-Free DNA Test (NIPT)
Metaphase Karyotype

Ultrasound Screening for Fetal Abnormalities:
Up to 3% of all babies born at term have congenital abnormalities. Ultrasound examination can detect fetal brain abnormalities, spina bifida, heart defects, kidney abnormalities, cleft lip and clubfoot among many others.

During amniocentesis a small amount of amniotic fluid is removed from the uterus for testing. Amniotic fluid can be tested to detect a chromosome abnormality like Down syndrome or a genetic disease like cystic fibrosis.
What to Expect After Your Amniocentesis

Tests of Fetal Well-Being:
In the third trimester, some babies may need increased testing to make sure that they are doing well. These tests include ultrasound examination for fetal growth as well as Non-Stress Testing and Biophysical Profile Testing.
Fetal Testing at Our Office