MID Pregnancy Infertility & Spontaneous Abortion

What branch of genetics studies chromosomes and their abnormalities?

Cytogenetics

What is the prenatal testing method that involves collecting amniotic fluid?

Amniocentesis

What does NIPT stand for?

Non-Invasive Prenatal Testing

What is a common chromosomal disorder caused by an extra copy of chromosome 21?

Trisomy 21 or Down syndrome

What is the sampling of placental tissue for chromosomal analysis called?

Chorionic Villus Sampling or CVS

Which imaging technique is used to measure nuchal translucency?

Ultrasound-Based Screening

What is the fetal blood sampling technique used for rapid diagnosis?

Cordocentesis

What genetic condition is associated with a 45,X chromosomal makeup?

Turner Syndrome

What method is used to detect copy number variations in fetal tissue from spontaneous abortions?

Chromosomal Microarray Analysis or CMA

What is the process of analyzing the structure, function, and abnormalities of chromosomes?

Karyotyping

__ is used in cases where rapid diagnosis is needed, such as suspected fetal anemia.

Cordocentesis

__ is the most common chromosomal disorder, characterized by intellectual disability.

Trisomy 21 or Down syndrome

__ is used to identify single-gene mutations that may contribute to miscarriage.

Whole-Exome Sequencing or WES

NIPT cannot detect balanced translocations or low-level __.

mosaicism

__ involves ensuring patients understand risks, benefits, and limitations of genetic testing.

Informed Consent

__ is characterized by severe midline defects, cleft lip/palate, and polydactyly.

Trisomy 13 or Patau Syndrome

__ is the process of culturing cells from amniotic fluid for chromosomal analysis.

Karyotyping

__ pregnancies, with chromosomal abnormalities being the leading cause.

Spontaneous abortion or miscarriage

__ syndrome is associated with a 47,XXY karyotype.

Klinefelter Syndrome

__ are used to detect aneuploidies and structural chromosomal abnormalities.

Amniocentesis and CVS

NIPT can detect balanced translocations.

False

Amniocentesis is typically performed in the first trimester.

False

Trisomy 18 is associated with a high neonatal mortality rate.

True

Ultrasound screening can definitively diagnose genetic conditions.

False

Karyotyping on fetal tissue has a higher success rate in prolonged miscarriages.

False

Cordocentesis is used for high-resolution karyotyping.

True

Turner syndrome results from an extra X chromosome.

False

CMA is less sensitive than karyotyping for detecting submicroscopic deletions.

False

Ethical considerations in prenatal genetic testing include equitable access.

True

Maternal contamination does not affect the integrity of genetic samples.

False

What is a potential psychological impact of prenatal genetic testing results? a) Increased parental bonding b) Potential distress affecting parental decisions c) Decreased anxiety in parents d) Enhanced family relationships

(b) Potential distress affecting parental decisions

Which prenatal testing method poses a slightly higher risk of complications but provides earlier results? a) Amniocentesis b) Cordocentesis c) Chorionic Villus Sampling (CVS) d) Ultrasound-Based Screening

(c) Chorionic Villus Sampling (CVS)

What is the primary function of NIPT? a) To detect all genetic disorders b) To analyze fetal DNA in maternal blood for common aneuploidies c) To perform high-resolution karyotyping d) To measure nuchal translucency

(b) To analyze fetal DNA in maternal blood for common aneuploidies

Which chromosomal abnormality is associated with severe developmental delays and clenched hands?
a) Trisomy 21
b) Trisomy 18
c) Trisomy 13
d) Turner Syndrome

(b) Trisomy 18

What is the primary goal of cytogenetic studies in spontaneous abortions? a) To determine the sex of the fetus b) To identify environmental factors leading to miscarriage c) To determine if genetic factors contributed to pregnancy loss d) To assess fetal growth

(c) To determine if genetic factors contributed to pregnancy loss

Which of the following is a limitation of current cytogenetic testing? a) 100% accuracy b) Detecting low-level mosaicism c) Maternal contamination affecting sample integrity d) Universal availability

(c) Maternal contamination affecting sample integrity

Which of the following is a future direction in prenatal cytogenetics? a) Decreased non-invasive testing b) Gene editing research c) Reduced genetic counseling services d) Limited AI in genetic analysis

(b) Gene editing research

Which method is used when rapid diagnosis is needed, such as suspected fetal anemia? a) Amniocentesis b) CVS c) Cordocentesis d) NIPT

(c) Cordocentesis

What is the main ethical concern regarding selective termination based on prenatal genetic testing? a) Increased access to healthcare b) Reproductive choices and potential discrimination c) Improved patient confidentiality d) Reduced psychological distress

(b) Reproductive choices and potential discrimination

What is a key advantage of CMA over karyotyping in spontaneous abortions? a) Lower cost b) Higher success rate in prolonged miscarriages c) Ability to detect copy number variations (CNVs) d) Faster turnaround time

(c) Ability to detect copy number variations (CNVs)

A couple receives NIPT results indicating a high risk for Trisomy 21. What should the healthcare provider recommend next? a) Proceed with the pregnancy without further testing. b) Offer diagnostic testing like amniocentesis or CVS. c) Recommend immediate termination of the pregnancy. d) Suggest an ultrasound to confirm the diagnosis.

(b) Offer diagnostic testing like amniocentesis or CVS.

A pregnant woman at 12 weeks gestation wants to know the earliest invasive test available to her. Which test should be recommended? a) Amniocentesis b) Cordocentesis c) Chorionic Villus Sampling (CVS) d) Ultrasound-Based Screening

(c) Chorionic Villus Sampling (CVS)

A family with a history of recurrent miscarriages seeks genetic counseling. Which test would be most effective in determining genetic causes? a) NIPT b) Ultrasound-Based Screening c) Whole-Exome Sequencing (WES) d) Amniocentesis

(c) Whole-Exome Sequencing (WES)

A pregnant woman has an ultrasound indicating increased nuchal translucency. What is the next step in her prenatal screening? a) Perform NIPT b) Directly proceed to cordocentesis c) Recommend a follow up ultrasound at 20 weeks. d) Recommend immediate termination of pregnancy.

(a) Perform NIPT

A couple is concerned about the reliability of NIPT. What information should the genetic counselor provide? a) NIPT is 100% accurate and diagnostic. b) NIPT is a screening test with high accuracy for common aneuploidies but has limitations. c) NIPT can detect all genetic disorders. d) NIPT is not recommended for prenatal screening.

(b) NIPT is a screening test with high accuracy for common aneuploidies but has limitations.

A patient’s amniocentesis results show low level mosaicism. What should the genetic counselor explain? a) The results are definitive and require immediate action. b) Mosaicism may require additional testing and interpretation. c) The results are false due to maternal contamination. d) Mosaicism is a normal finding and requires no further action.

(b) Mosaicism may require additional testing and interpretation.

A clinic in a developing region has limited access to advanced genetic testing. What is the most cost-effective initial screening method? a) NIPT b) Ultrasound-Based Screening c) Cordocentesis d) Whole-Exome Sequencing (WES)

(b) Ultrasound-Based Screening

A pregnant woman with Rh-negative blood needs rapid fetal genetic testing. Which test is most appropriate to minimize the risk of Rh sensitization? a) Amniocentesis b) Cordocentesis c) Chorionic Villus Sampling (CVS) d) NIPT

(d) NIPT

A couple is considering prenatal testing because of advanced maternal age. Which test should the healthcare provider initially recommend, considering its non-invasive nature and high detection rate for common aneuploidies? a) Amniocentesis b) Cordocentesis c) Chorionic Villus Sampling (CVS) d) NIPT

(d) NIPT

In a case where a fetal ultrasound reveals multiple structural