The science behind the Early Gender DNA test
How does the Early Gender test work?
This DNA test detects the presence of male specific DNA in a blood sample. The blood of every person has their own DNA. Interestingly, the blood of pregnant women also contains small amount of DNA from the baby or fetal DNA. As such, fetal DNA can be collected and analyzed for various genetic conditions.
The science behind the Early Gender DNA test
How does the Early Gender test work?
This DNA test detects the presence of male specific DNA in a blood sample. The blood of every person has their own DNA. Interestingly, the blood of pregnant women also contains small amount of DNA from the baby or fetal DNA. As such, fetal DNA can be collected and analyzed for various genetic conditions.
Gender DNA tests detect presence of the Y chromosome, which is one of the sex chromosomes found only in males. If the test detects the presence of the Y chromosome this implies that the gender of the baby is male. If they are not detected, then the gender of the baby is female. DNA tests can determine the gender of a fetus as early as 6 weeks of pregnancy using maternal blood (relevant publications found in PUBLICATIONS link).
What happens in the lab?
Tests performed on fetal DNA collected from a maternal blood sample are called non-invasive prenatal testing (NIPT). Our testing pipeline involves first collecting cell-free fetal DNA (cffDNA) from the blood sample. This purified DNA is then analyzed using a very sensitive methods that amplifies specific regions of the Y chromosome. Since the Y chromosome is unique to males, if it is detected in a sample collected from maternal blood this indicates the baby is male. The Early DNA test is xx.x% accurate at detecting fetal gender at 6 weeks of pregnancy.
Publications
Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study.
Fernández-Martínez FJ, Galindo A, Garcia-Burguillo A, Vargas-Gallego C, Nogués N, Moreno-García M, Moreno-Izquierdo A. Genet Med. 2012 Jan;14(1):101-6. doi: 10.1038/gim.2011.8. PMID: 22237438.
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus.
Lo YM, Chan KC, Sun H, Chen EZ, Jiang P, Lun FM, Zheng YW, Leung TY, Lau TK, Cantor CR, Chiu RW. Sci Transl Med. 2010 Dec 8;2(61):61ra91. doi: 10.1126/scitranslmed.3001720. PMID: 21148127.
Fetal DNA detection in maternal plasma throughout gestation.
Galbiati S, Smid M, Gambini D, Ferrari A, Restagno G, Viora E, Campogrande M, Bastonero S, Pagliano M, Calza S, Ferrari M, Cremonesi L. Hum Genet. 2005 Jul;117(2-3):243-8. doi: 10.1007/s00439-005-1330-z. Epub 2005 May 20. PMID: 15906093.
Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis.
Wright CF, Wei Y, Higgins JP, Sagoo GS. N BMC Res Notes. 2012 Sep 1;5:476. doi: 10.1186/1756-0500-5-476. PMID: 22937795; PMCID: PMC3444439.
Use of free fetal DNA in prenatal noninvasive detection of fetal RhD status and fetal gender by molecular analysis of maternal plasma.
Sedrak M, Hashad D, Adel H, Azzam A, Elbeltagy N. Use of free fetal DNA in prenatal noninvasive detection of fetal RhD status and fetal gender by molecular analysis of maternal plasma. Genet Test Mol Biomarkers. 2011 Sep;15(9):627-31. doi: 10.1089/gtmb.2010.0263. Epub 2011 Apr 13. PMID: 21488716.
Assessment of Fetal Rhesus D and Gender with Cell-Free DNA and Exosomes from Maternal Blood.
Yaşa B, Şahin O, Öcüt E, Seven M, Sözer S. Reprod Sci. 2021 Feb;28(2):562-569. doi: 10.1007/s43032-020-00321-4. Epub 2020 Sep 23. PMID: 32968935.
Non-invasive Prenatal Testing Using Fetal DNA.
Breveglieri G, D’Aversa E, Finotti A, Borgatti M. Mol Diagn Ther. 2019 Apr;23(2):291-299. doi: 10.1007/s40291-019-00385-2. PMID: 30712216.
Cell-free fetal DNA testing and its correlation with prenatal indications.
Wang JW, Lyu YN, Qiao B, Li Y, Zhang Y, Dhanyamraju PK, Bamme Y, Yu MD, Yang D, Tong YQ. BMC Pregnancy Childbirth. 2021 Aug 24;21(1):585. doi: 10.1186/s12884-021-04044-5. PMID: 34429082; PMCID: PMC8385810.
Noninvasive prenatal screening using cell-free DNA.
Mladenka C. J Am Assoc Nurse Pract. 2022 Jun 1;34(6):789-791. doi: 10.1097/JXX.0000000000000710. PMID: 35661095.
Successful early fetal sex determination using cell-free fetal DNA isolated from maternal capillary blood: A pilot study.
Kazachkova N, Gontar J, Verlinsky O, Ilyin I. Eur J Obstet Gynecol Reprod Biol X. 2019 May 7;3:100038. doi: 10.1016/j.eurox.2019.100038. PMID: 31403126; PMCID: PMC6687385.