Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood

The goal of this study is to further develop a non-invasive prenatal blood test that can
diagnose genetic disorders in the fetus by looking at fetal DNA (genetic material) found in
the mother's bloodstream during pregnancy.

Women carrying a fetus diagnosed with microdeletions/microduplications (small missing or
extra pieces of DNA that can cause problems), aneuploidy (trisomy 21, 18, or 13) or other
genetic disorders will be asked to participate.

If this study is successful, it will reduce the need for invasive procedures during pregnancy
such as amniocentesis and chorionic villus sampling (CVS) but still enable women to find out
accurate information regarding their baby's health early in the pregnancy.

Inclusion Criteria:

- Age 18 or older at enrollment

- Singleton pregnancy

- Fetus with confirmed diagnosis of chromosomal abnormality or genetic disorder through
karyotype, FISH or positive microarray results after amniocentesis or chorionic villus
testing

- The biological father of the fetus at least 18 years of age

- Able to provide informed consent

Exclusion Criteria:

- Women carrying multiples

- Pregnancy is a result of IVF with pre-implantation genetic diagnosis

- Surrogate/egg or sperm donor used

- Previous participation in this study during a previous pregnancy