Evidence-Based Supplement & Herb Guides

22q11.2 Deletion Syndrome Genetic Test: DiGeorge Syndrome and Results

Learn how 22q11.2 deletion syndrome genetic testing works, what positive, negative, prenatal, and family results mean, and which follow-up evaluations may be needed.

A 22q11.2 deletion syndrome genetic test looks for a missing segment of chromosome 22. The deletion can affect the heart, palate, immune system, calcium...

Amniocentesis Genetic Test: Chromosomes, DNA, Diagnosis, and Results

Understand how amniocentesis tests fetal chromosomes and DNA, when it is offered, how the procedure works, what results mean, and the risks and alternatives.

Amniocentesis is a prenatal diagnostic procedure that removes a small amount of amniotic fluid for laboratory testing. The fluid contains fetal cells and other...

Cell-Free DNA (cfDNA) Prenatal Test: Fetal Chromosome Screening and Results

Learn how cell-free DNA prenatal screening works, what low-chance, high-chance, no-call, and atypical results mean, and when CVS or amniocentesis is needed.

Cell-free DNA prenatal testing is a blood screening test that estimates the chance of selected fetal chromosome conditions, especially trisomy 21, trisomy 18, and...

CFTR Genetic Test for Male Infertility: Congenital Absence of the Vas Deferens and Results

Learn how CFTR testing helps diagnose congenital absence of the vas deferens, how to read results, why partner testing matters, and which fertility options are available.

A CFTR genetic test can help explain male infertility caused by congenital absence of the vas deferens, the tubes that normally carry sperm from...

Chorionic Villus Sampling (CVS) Genetic Test: Prenatal Diagnosis and Results

Learn how chorionic villus sampling provides early prenatal diagnosis, how CVS is performed, what normal, abnormal, uncertain, and mosaic results mean, and when amniocentesis may be needed.

Chorionic villus sampling, or CVS, is an early prenatal diagnostic procedure that collects a small sample of placental tissue for chromosome or DNA testing....

Down Syndrome Genetic Test: Trisomy 21 Screening, Diagnosis, and Results

Understand Down syndrome genetic testing, including trisomy 21 screening, CVS and amniocentesis diagnosis, chromosome results, recurrence, and next steps.

A Down syndrome genetic test can estimate the chance that a pregnancy is affected by trisomy 21 or confirm whether an extra copy of...

Edwards Syndrome Genetic Test: Trisomy 18 Screening, Diagnosis, and Results

Learn how Edwards syndrome genetic testing screens for and diagnoses trisomy 18, how results are reported, and what they mean for care and recurrence.

An Edwards syndrome genetic test looks for extra chromosome 18 material, a finding called trisomy 18. During pregnancy, some tests estimate the chance of...

Embryo Genetic Testing: IVF, Chromosomes, Mutations, and Results

Understand embryo genetic testing in IVF, including PGT-A, PGT-M, PGT-SR, biopsy, mosaic results, limitations, embryo transfer, and prenatal confirmation.

Embryo genetic testing examines a small group of cells from embryos created through in vitro fertilization. The test can look for extra or missing...

Fetal Aneuploidy Test: Trisomy, Monosomy, Chromosome Risk, and Results

Understand fetal aneuploidy testing for trisomy, monosomy, chromosome risk, screening results, diagnostic confirmation, mosaicism, and next steps.

A fetal aneuploidy test evaluates whether a pregnancy may have an extra or missing chromosome. An extra copy is called a trisomy; a missing...

First-Trimester Screening Test: Down Syndrome Risk, PAPP-A, hCG, and Results

Understand first-trimester screening for Down syndrome risk, including PAPP-A, hCG, nuchal translucency, result ratios, limitations, and follow-up options.

First-trimester screening combines an ultrasound measurement with pregnancy-related blood markers to estimate the chance of Down syndrome and, in many programs, trisomy 18 and...

Karyotype Test for Infertility: Chromosome Abnormalities and Results

Understand infertility karyotype testing, including chromosome abnormalities, male and female findings, result notation, limitations, and reproductive options.

A karyotype test for infertility examines the number and large-scale structure of chromosomes in a blood sample. It can identify findings such as Klinefelter...

Klinefelter Syndrome Genetic Test: XXY Chromosomes, Diagnosis, and Results

Understand Klinefelter syndrome genetic testing, including 47,XXY and mosaic results, prenatal confirmation, hormone follow-up, fertility options, and next steps.

Klinefelter syndrome is a chromosome condition most often caused by an extra X chromosome in a person who also has a Y chromosome. The...

Maternal Serum AFP Test: Neural Tube Defect Risk and Pregnancy Results

Learn how the maternal serum AFP test screens for open neural tube defects, how MoM results are calculated, why AFP may be high, and what follow-up involves.

The maternal serum alpha-fetoprotein test, usually shortened to MSAFP, is a second-trimester blood screening test used mainly to estimate the chance of an open...

Newborn Cystic Fibrosis Screening Test: IRT, CFTR, and Results

Understand newborn cystic fibrosis screening, including IRT, CFTR variant results, sweat chloride confirmation, carrier findings, and CRMS/CFSPID follow-up.

Newborn cystic fibrosis screening starts with a few drops of blood collected on a filter-paper card. The laboratory first measures immunoreactive trypsinogen, or IRT,...

Newborn SCID Screening Test: TREC, Immune Deficiency, and Results

Understand newborn SCID screening, including TREC results, causes of low T cells, confirmatory flow cytometry, urgent precautions, genetic testing, and treatment.

Newborn screening for severe combined immunodeficiency, or SCID, measures tiny DNA circles called TRECs in a dried blood spot. TRECs are produced when new...

Newborn Screening Genetic Test: Inherited Metabolic Disorders and Results

Understand newborn screening for inherited metabolic disorders, including blood-spot markers, abnormal results, time-critical follow-up, confirmatory tests, and genetics.

Newborn blood-spot screening looks for signs of serious conditions before a baby becomes visibly ill. Many of the target conditions are inherited metabolic disorders,...

Newborn SMA Screening Test: SMN1 Gene, Early Diagnosis, and Results

Understand newborn SMA screening, SMN1 and SMN2 results, confirmatory testing, early treatment decisions, missed variants, and family planning after an abnormal result.

Newborn screening for spinal muscular atrophy (SMA) can identify many affected babies before weakness is visible. The test uses the routine heel-prick blood spot...

Noninvasive Prenatal Testing (NIPT): Trisomy 21, Trisomy 18, Trisomy 13, and Results

Learn how NIPT screens for trisomy 21, trisomy 18, and trisomy 13, what low-risk, high-risk, and no-call results mean, and when diagnostic testing is needed.

Noninvasive prenatal testing (NIPT), also called prenatal cell-free DNA screening, estimates the chance that a pregnancy has trisomy 21, trisomy 18, or trisomy 13...

Parental Karyotype Test: Infertility, Miscarriage, Translocations, and Results

Learn how a parental karyotype test can identify balanced translocations and other chromosome changes linked to infertility, recurrent miscarriage, and pregnancy risk.

A parental karyotype test examines the number and visible structure of chromosomes in one or both partners. It may help explain recurrent miscarriage, severe...

Patau Syndrome Genetic Test: Trisomy 13 Screening, Diagnosis, and Results

Understand Patau syndrome genetic testing, including trisomy 13 screening, CVS and amniocentesis diagnosis, result interpretation, prognosis, and recurrence risk.

Patau syndrome genetic testing looks for an extra copy of chromosome 13, a finding called trisomy 13. Prenatal screening can estimate the chance that...