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Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible.

These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts (as in preimplantation genetic diagnosis) or as early in gestation as practicable.

Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.

Prenatal screening focuses on finding problems among a large population with affordable and noninvasive methods.

One study comparing transabdominal chorionic villus sampling with second trimester amniocentesis found no significant difference in the total pregnancy loss between the two procedures.

However, transcervical chorionic villus sampling carries a significantly higher risk, compared with a second trimester amniocentesis, of total pregnancy loss (relative risk 1.40; 95% confidence interval 1.09 to 1.81) and spontaneous miscarriage (9.4% risk; relative risk 1.50; 95% confidence interval 1.07 to 2.11).

Cell-free fetal DNA also allows whole genome sequencing of the fetus, thus determining the complete DNA sequence of every gene.

Cervical mucus aspiration, cervical swabbing, and cervical or intrauterine lavage can be used to retrieve trophoblast cells for diagnostic purposes, including prenatal genetic analysis.

Diagnostic prenatal testing can be performed by invasive or non-invasive methods.Additional ultrasounds may be performed if there are any other problems with the pregnancy, or if the pregnancy is post-due. Based on enrichment of fetal cells which circulate in maternal blood.Since fetal cells hold all the genetic information of the developing fetus, they can be used to perform prenatal diagnosis.(available in the United States, beginning 2011) and gender of a fetus as early as six weeks into a pregnancy.Fetal DNA ranges from about 2–10% of the total DNA in maternal blood.

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