Reproductive and Prenatal Genetic Tests

Explore clear, evidence-based guidance on reproductive and prenatal genetic tests used before conception, during fertility treatment, throughout pregnancy, and after pregnancy loss. This category explains how genetic screening differs from diagnostic testing, what each test can and cannot detect, and how results may influence medical care, family planning, and next steps. Topics include parental karyotyping, recurrent pregnancy loss testing, products of conception analysis, Y-chromosome microdeletion and CFTR testing for male infertility, and preimplantation genetic testing for IVF—including PGT-A, PGT-M, and PGT-SR. You will also find detailed information on prenatal screening options such as cell-free DNA testing, NIPT, first-trimester screening, maternal serum AFP, and the second-trimester quad screen. Diagnostic testing is covered in depth, including chorionic villus sampling, amniocentesis, prenatal karyotype, chromosomal microarray, and prenatal exome sequencing. Condition-specific guides address Down syndrome, Edwards syndrome, Patau syndrome, Turner syndrome, Klinefelter syndrome, sex chromosome aneuploidies, fetal aneuploidy, and 22q11.2 deletion syndrome. The collection also covers newborn genetic screening for inherited metabolic disorders, cystic fibrosis, SMA, and SCID. Each article explains test timing, accuracy, limitations, possible findings, follow-up testing, and the role of genetic counseling, helping you discuss your options with a healthcare professional more confidently.