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OB/GYN: Genetic Disorders & Conditions, Exams of Nursing

William Jessup UniversityNursing

A comprehensive overview of various genetic and developmental conditions commonly encountered in obstetrics and gynecology. It covers topics such as trisomy 13, 18, and 21 (down syndrome), hermaphroditism, turner's syndrome, klinefelter's syndrome, neural tube disease, and cystic fibrosis. Key characteristics, diagnostic features, and treatment approaches for each condition, making it a valuable resource for students and professionals in the field.

Typology: Exams

2024/2025

Available from 10/30/2024

lucinda-bernadette
lucinda-bernadette 🇺🇸

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AHN 548 OB/GYN ch 3 Unit 1 | Comprehensive Questions and Answers Latest Updated 2024/2025
With 100% Verified Solutions
Trisomy 13 - ✔✔Severe mental retardation, congenital
heart disease, polydactyly, low set
ears, cleft palate, low birth weight.
Trisomy 18 - ✔✔Trisomy E; severe mental retardation,
long narrow skull with prominent
occiput, congenital heart disease, low
set ears, harelip and cleft palate, low
birth weight
Trisomy 18 - ✔✔Dx during gestation: low maternal AFP, low conjucated estriol, low HCG
Trisomy 21 (Down's) - ✔✔increased risk with maternal age; Down Syndrome
Trisomy 21 (Down's) Patho - ✔✔A third # 21 chromosome
Trisomy 21 (Down's) Dx during Gestation - ✔✔Low maternal AFP, low conjugated estiol and high HCG.
Trisomy 21 (Down's) s/s - ✔✔Microcephaly, flattened nose, protruding tongue, upward slanted eyes,
hypotonia
Prader-Willi Syndrome & Angelman Syndrome - ✔✔2 Disorders caused when both sets of chromosomes
are from only one parent. Imprinting disorders
True Hermaphroditism - ✔✔Almost all develop female type breasts & many menstruate (depending on
presence/absence of uterus).
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AHN 548 OB/GYN ch 3 Unit 1 | Comprehensive Questions and Answers Latest Updated 2024/ With 100% Verified Solutions Trisomy 13 - ✔✔Severe mental retardation, congenital heart disease, polydactyly, low set ears, cleft palate, low birth weight. Trisomy 18 - ✔✔Trisomy E; severe mental retardation, long narrow skull with prominent occiput, congenital heart disease, low set ears, harelip and cleft palate, low birth weight Trisomy 18 - ✔✔Dx during gestation: low maternal AFP, low conjucated estriol, low HCG Trisomy 21 (Down's) - ✔✔increased risk with maternal age; Down Syndrome Trisomy 21 (Down's) Patho - ✔✔A third # 21 chromosome Trisomy 21 (Down's) Dx during Gestation - ✔✔Low maternal AFP, low conjugated estiol and high HCG. Trisomy 21 (Down's) s/s - ✔✔Microcephaly, flattened nose, protruding tongue, upward slanted eyes, hypotonia Prader-Willi Syndrome & Angelman Syndrome - ✔✔2 Disorders caused when both sets of chromosomes are from only one parent. Imprinting disorders True Hermaphroditism - ✔✔Almost all develop female type breasts & many menstruate (depending on presence/absence of uterus).

Male Hermaphroditism - ✔✔patho: abnormal or ectopic testes but ambiguous external genitalia Male Hermaphroditism - ✔✔s/s: External presentation varies from normal female genitalie to fused labia presenting like hypospadiac male, breasts may or may not be present, body hair may or may not be present Internal female structures may be present but ALWAYS amenorrheic Hermaphroditism - ✔✔Tx: Sex of rearing is most important. any change after infancy leads to psychological problems. Surgical reconstruction Female hermaphroditism - ✔✔Tx: Cortisone for complete female development Surgery to remove external structures Female hermaphroditism d/t Congenital Adrenal Hyperplasia (CAH) - ✔✔Tx: Administration of sufficient exogenous cortisol to suppress ACTH production to normal levels Neural Tube Disease - ✔✔associated with a multifactorial inheritance pattern Neural Tube Disease - ✔✔Diagonistics: Elevated alpha fetoprotein (AFP) in maternal serum drawn 16- 18 weeks of gestation Definitive dx of chromosomal abnormality confirmation - ✔✔fetal karyotype (either amniocentesis or chorionic villus sampling) Fetal Karyotype - ✔✔Gold standard for prenatal testing in women > 35 y/o, previous chomosomally abnormal child, 3 or more spont. abortions, parent or husband with chromosome anomaly, + 2nd trimester maternal serum screen.

Klinefelter's Syndrome - ✔✔Not recognizable before puberty, except by routine screening of newborn infants; XXY Syndrome (extra x chromosome; ONLY in males) Klinefelter's Syndrome s/s - ✔✔small testes in contrast to rest of genitalia, tall stature, transverse crease, gynecomastia, Learning disability Klinefelter's Syndrome lab findings - ✔✔excessive amount of pituitary gonadotropin Klinefelter's Syndrome Tx - ✔✔no treatment for infertility or gynecomastia in pt's with s/s of hypogonadism, testosterone therapy is imperative