Maternal-Fetal Medicine

Your visit to maternal-fetal medicine may include a session with one of our genetic counselors. Genetic counseling provides information regarding screening or diagnostic tests, abnormal screening results, a review of your family history, or counseling regarding your ultrasound. You can reach out to one of our genetic counselors at any time by calling (781) 624-5041.  

Your provider’s office may recommend consultation with a maternal-fetal medicine specialist because of concerns regarding a maternal and/or fetal condition. A consultation may involve taking a comprehensive family and medical history, possibly a physical examination, and a thorough discussion.

A fetal echocardiogram, also referred to as a “fetal echo,” is the most common form of ultrasound to evaluate the baby's heart in greater detail than typically performed during a routine ultrasound visit. The examination is performed by a specially trained ultrasound sonographer and the images are interpreted by either a pediatric cardiologist or a maternal-fetal medicine specialist (perinatologist). A fetal echo is usually performed after 18 weeks gestation and a full bladder is not required.

First Trimester Screening

First-Trimester Screening is an early optional non-invasive evaluation that combines a maternal blood screening test with an ultrasound evaluation of the fetus to identify risks for specific chromosomal abnormalities. In addition to screening for these abnormalities, an ultrasound (known as the nuchal translucency) can assist in identifying other significant fetal abnormalities, such as cardiac disorders and other concerns in early fetal development.

Our unit has created a short video about First Trimester Screening. Access your test results via these instructions. 

Chorionic Villus Sampling

Chorionic villus sampling (CVS) is a prenatal diagnostic test that involves obtaining a sample of tissue from the placenta to test for chromosomal abnormalities and certain other genetic problems. CVS is usually done between the 11th and 13th weeks of pregnancy. Unlike amniocentesis (another type of prenatal test), CVS does not provide information on neural tube defects, such as spina bifida. For this reason, women who undergo CVS also need a follow-up blood test between 16 to 18 weeks of their pregnancy to screen for neural tube defects.

Amniocentesis

Amniocentesis is a prenatal diagnostic test where a sample of the amniotic fluid is removed through a fine needle inserted into the uterus through your abdomen, under ultrasound guidance. Amniocentesis is usually performed after 15 weeks of pregnancy and tests for chromosomal abnormalities and other genetic disorders.