Congenital diaphragmatic hernia other diagnostic studies: Difference between revisions
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==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
* [[High resolution Ultrasound]]: assess for birth defects that may have been overlooked in initial ultrasounds; often done at 18-22 weeks | |||
*[[Chorionic villus sampling]]: collecting a sample of placenta tissues to determine the presence or absence of genetic or chromosomal disorders; performed between 10-12 weeks | |||
*[[Amniocentesis]]: process by which fluid containing cells surrounding the baby is collected. These cells can then be tested for genetic defects. Due to the higher risk carried by this procedure, it is not a routine one and is performed only when indicated after other abnormal tests; often completed between 15-18 weeks of gestation | |||
**[[AFP]] | |||
**[[Acetylcholinesterase]] | |||
*Chromosomal [[microarray]] analysis: [[Single nucleotide polymorphism|Single Nucleotide Polymorphisms (SNPs)]] can detect [[microdeletions]] and [[microduplications]] | |||
*[[Karyotyping]]: a process by which chromosomes are identified and sorted <ref name="pmid25650937">{{cite journal| author=Shemilt L, Verbanis E, Schwenke J, Estandarte AK, Xiong G, Harder R | display-authors=etal| title=Karyotyping human chromosomes by optical and X-ray ptychography methods. | journal=Biophys J | year= 2015 | volume= 108 | issue= 3 | pages= 706-13 | pmid=25650937 | doi=10.1016/j.bpj.2014.11.3456 | pmc=4317545 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25650937 }}</ref> | |||
==References== | ==References== | ||
Revision as of 07:58, 24 April 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Arooj Naz, M.B.B.S
Overview
Other Diagnostic Studies
- High resolution Ultrasound: assess for birth defects that may have been overlooked in initial ultrasounds; often done at 18-22 weeks
- Chorionic villus sampling: collecting a sample of placenta tissues to determine the presence or absence of genetic or chromosomal disorders; performed between 10-12 weeks
- Amniocentesis: process by which fluid containing cells surrounding the baby is collected. These cells can then be tested for genetic defects. Due to the higher risk carried by this procedure, it is not a routine one and is performed only when indicated after other abnormal tests; often completed between 15-18 weeks of gestation
- Chromosomal microarray analysis: Single Nucleotide Polymorphisms (SNPs) can detect microdeletions and microduplications
- Karyotyping: a process by which chromosomes are identified and sorted [1]
References
- ↑ Shemilt L, Verbanis E, Schwenke J, Estandarte AK, Xiong G, Harder R; et al. (2015). "Karyotyping human chromosomes by optical and X-ray ptychography methods". Biophys J. 108 (3): 706–13. doi:10.1016/j.bpj.2014.11.3456. PMC 4317545. PMID 25650937.