Editing Prenatal testing (section)

=== Prenatal genetic testing ===
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The goal of prenatal genetic testing is to identify pregnancies at high risk of abnormalities, allowing for early intervention, termination or appropriate management and preparation measures.<ref>{{Cite journal |last1=Jelin |first1=Angie C. |last2=Sagaser |first2=Katelynn G. |last3=Wilkins-Haug |first3=Louise |date=April 1, 2019 |title=Prenatal Genetic Testing Options |url=https://www.sciencedirect.com/science/article/pii/S0031395518302037 |journal=Pediatric Clinics of North America |series=Current Advances in Neonatal Care |language=en |volume=66 |issue=2 |pages=281–293 |doi=10.1016/j.pcl.2018.12.016 |issn=0031-3955 |pmid=30819336 |s2cid=73470036|url-access=subscription }}</ref> Prenatal genetic testing can be subdivided into two categories: screening and diagnostic testing. Screening informs an individual of the potential for certain abnormalities occurring, whereas, diagnostic testing is used to confirm/diagnose that specific abnormalities exist within the fetus. Prenatal screens are typically less invasive than prenatal diagnostic tests. Screening comes with much lower risks, however, the results are not as definitive as diagnostic tests. Providers often recommend following up with a diagnostic test upon receipt of a positive result from a specific screen.<ref>{{Cite journal |last1=Jenkins |first1=Morgan |last2=Seasely |first2=Angela R. |last3=Subramaniam |first3=Akila |date=December 2022 |title=Prenatal genetic testing 1: screening tests |url=https://journals.lww.com/co-pediatrics/abstract/2022/12000/prenatal_genetic_testing_1__screening_tests.5.aspx. |journal=Current Opinion in Pediatrics |language=en-US |volume=34 |issue=6 |pages=544 |doi=10.1097/MOP.0000000000001172 |issn=1040-8703|url-access=subscription }}</ref>

Medically invasive techniques are those in which a tool is used to access something inside the body. There are varying degrees of invasiveness, depending on what specimen is required to complete the test. The typical blood draw administered by a healthcare professional is one of the most common invasive medical practices.<ref>{{Citation |title=Best practice in phlebotomy and blood collection |date=March 2010 |url=https://www.ncbi.nlm.nih.gov/books/NBK138496/ |work=WHO Best Practices for Injections and Related Procedures Toolkit |access-date=2023-12-01 |publisher=World Health Organization |language=en}}</ref> Since it causes minimal discomfort and there is very low risk associated with the sample collection, a blood draw is considered less invasive. Chorionic villus sampling (CVS) and Amniocentesis are the most invasive prenatal tests because there is greater associated risk and the sample is more difficult to access. These procedures are done via needle insertion into the abdomen to collect a sample within the uterus, meaning exceptional care/precision is required.<ref>{{Cite web |last=Medicine |first=Northwestern |title=Prenatal Genetic Testing |url=https://www.nm.org/conditions-and-care-areas/womens-health/obgyn/obstetrics/prenatal-care/prenatal-genetic-testing |access-date=2023-12-01 |website=Northwestern Medicine |language=en-US}}</ref>
Prenatal genetic testing can identify various chromosomal abnormalities, autosomal conditions, various birth defects, and some fetal blood disorders.

[[Chromosomal abnormalities]] are when the chromosomes differ in either structure or number when compared to a typical reference genome. This includes chromosomal deletions, duplications, inversions, and translocations.<ref>{{Cite web |title=What is a chromosome condition? |url=https://www.yourgenome.org/theme/what-is-a-chromosome-condition/ |access-date=2025-03-25 |website=@yourgenome · Science website |language=en-GB}}</ref>  Some examples of chromosomal abnormalities include:
* [[Down syndrome]] (trisomy 21)
* [[Edwards syndrome]] (trisomy 18)
* [[Patau syndrome]] (trisomy 13)
* [[Turner syndrome]] (monosomy X)
* [[Klinefelter syndrome]] (XXY)
* [[Trisomy X]] (XXX)
* [[Jacobs syndrome]] (XYY)
* [[Pallister–Killian syndrome]]
* [[Wolf–Hirschhorn syndrome]]
* [[Cri du chat syndrome|Cri-du-chat syndrome]]
* [[WAGR syndrome]]
* [[DiGeorge syndrome]]
* [[Fragile X syndrome]]
– Prader-Willi/Angelman syndrome

[[Dominance (genetics)|Autosomal recessive]] conditions occur when both parents pass on a mutation within an autosomal (non-sex) chromosome.<ref>{{Cite web |title=Carrier Test for Autosomal Recessive Conditions Video & Image |url=https://www.columbiadoctors.org/health-library/multimedia/carrier-test-autosomal-recessive-conditions/ |access-date=2023-12-01 |website=www.columbiadoctors.org}}</ref>  Some examples of autosomal recessive conditions are:
* [[Cystic fibrosis]]
* [[Sickle cell disease|Sickle cell anemia]]
* [[Tay–Sachs disease]]
* [[Spinal muscular atrophy]]
* [[Autosomal recessive polycystic kidney disease]]
* [[Phenylketonuria]]

[[Neural tube defect]]s are a type of birth defect that occurs when the neural tube of a fetus does not form/close properly, potentially effecting other systems throughout the body.<ref>{{Cite web |title=Neural Tube Defects – Causes, Types, Treatment & More {{!}} CHOC |url=https://www.choc.org/neuroscience/neural-tube-defects/ |access-date=2023-12-01 |website=Children's Hospital of Orange County |language=en}}</ref>  Some examples of neural tube defects are:
* [[Spina bifida]]
* [[Anencephaly]]
* [[Encephalocele]]
* [[Tethered spinal cord syndrome]]

[[Abdominal wall defect]]s are a type of birth defect that occur when the abdominal wall of a fetus does not form properly, potentially effecting other organs throughout the body.<ref>{{Cite web |title=List of fetal abdominal wall defects with links to each condition |url=https://www.fetalhealthfoundation.org/fetal-syndromes/abdominal-wall-defect/ |access-date=2023-12-01 |website=Fetal Health Foundation |language=en-US}}</ref>  Some examples of abdominal wall defects are:
* [[Gastroschisis]]
* [[Omphalocele]]
* [[Bladder exstrophy]]
* [[Cloacal exstrophy]]
* [[Ectopia cordis]]
* [[Pentalogy of Cantrell]]
* Body-stalk anomaly

Blood disorders can occur from a negative interaction between the maternal blood and the fetal blood.<ref>{{Cite web |title=Hemolytic Disease of the Fetus and Newborn (HDFN) |url=https://www.nationwidechildrens.org/conditions/hemolytic-disease-of-the-fetus-and-newborn-hdfn |access-date=2023-12-01 |website=www.nationwidechildrens.org |language=en}}</ref> An example of a fetal blood disorder is [[Hemolytic disease of the newborn|Hemolytic disease of the fetus]].