Down's Syndrome:Summary for Prenatal Screening and Diagnosis

4th Pediatric Infectious Diseases Conference

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DOWN'S SYNDROME: PRENATAL SCREENING AND DIAGNOSIS

Summary

Related topics

Prenatal Screening

UltraSound Assessment

First-Trimester Screening and Prenatal Diagnosis

Dr. Swati Kolpuru,
DCH.

SUMMARY :

Women with low risk :

		Age less than 35 years

		No previous pregnancy of Down syndrome

		Triple serum screening

		If positive

		Confirm gestational age by fetal ultrasonography

		Confirm diagnosis by amniocentesis or CVS sampling

Women with high risk :

	Age more than 35 years
	Previous pregnancy of Down syndrome
	Known carrier status for a chromosomal rearrangement associated with DS

	Prenatal diagnosis by amniocentesis or CVS sampling

REFERENCES

Hook EB. Rates of chromosome abnormalities at different maternal ages. Obstet Gynecol 1987; 94:387-402.
Cuckle HS, Wald NJ, Thompson SG. Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum alpha-fetoprotein level. Br J Obstet Gynecol 1987; 94:387-402
Wald NJ, Cuckle HS, Densem JW, Nanchahal K, Royston P, Chard T, et al. Maternal serum screening for Down's syndrome in early pregnancy. BMJ 1988; 297:1029.
Haddow JE, Palomaki GE, Knight GJ, Williams J, Pulkkinen A, Canick JA, et al. Prenatal screening for Down's syndrome with use of maternal serum markers. N Engl J Med 1992; 327:588-93.
Saller DN, Canick JA. Maternal serum screening for Down syndrome clinical aspects. Clin Obstet Gynecol 1996; 39; 783-92.
American College of Medical Genetics Clinical Practice Committee. Statement on multiple marker screening in pregnant women. American College of Medical Genetics College Newsletter, January 1994; 2.
Benacerraf BR. Ultrasound of fetal syndromes. New York: Churchill Livingstone, 198:328-38.
Vitzileos AM, Campbell WA, Rodis JF, Guzman ER, Smulian JC, Knuppel RA. The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21. Obstet Gynecol 1996; 87:948-52.
Firth HV, Boyd PA, Chamberlain P, Mackenzie IZ, Lindenbaum RH, Huson SM. Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation. Lancet 1991, 337; 762-3.
Burton BK, Schulz CJ, Burd L. Limb abnormalities associated with chorionic villus sampling. Obstet Gynecol 1992; 79; 726-30.
Nicolaides KH, de Lourdes Brizot M, Patel F, Snidjers R. Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10-13 weeks gestation. Lancet 1994; 344:435-9.
Canadian Early and Mid-Trimester Amniocentesis Trial (CEMAT) Group. Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis. Lancet 19998; 351:242-7.
Tunis S. Golbus MS, Copeland KL. et al. Patterns of mood states in pregnant women undergoing chorionic villus sampling or amniocentesis. Am J Med Genet 1990; 37:191-199.
Abuelo D, Hopmann MR, Barsel- Bowers G, et al. Anxiety in women with low maternal serum alpha-fetoprotein screening results. Prenat Diagn 1991; 11:381-385.

For further details see Down's syndrome
see Clinical features of Down's syndrome in neonates

Last created on 23-02-2001
Last updated on 30-04-2007

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