Prenatal Screening and Ultrasonography

Play an AI-generated podcast conversation about this lesson

What is the purpose of ultrasonography in prenatal screening?

To carry out at specific weeks to detect abnormalities or disorders (correct)

To perform a biopsy via catheter through the cervix or by transabdominal puncture

To measure maternal serum levels of AFP, hCG, and uE3

To detect echoes reflecting from organ boundaries and convert them to images on a monitor

What does amniocentesis involve?

Carrying out genetic screening via maternal serum analysis

Inserting a needle through the mother's abdominal wall to withdraw an amniotic fluid sample (correct)

Localization of the placenta by ultrasound

Performing a biopsy via catheter through the cervix or by transabdominal puncture

What is the purpose of syncytiotrophoblast biopsy?

To measure maternal serum levels of AFP, hCG, and uE3

To be used as a component of screening for fetus trisomy (correct)

To detect echoes reflecting from organ boundaries and convert them to images on a monitor

To guide a needle insertion through the mother's abdominal wall to withdraw an amniotic fluid sample

At what stage of gestation can anencephaly be detected?

Week 18-20 Signup and view all the answers

What is the risk of miscarriage associated with chorionic villus sampling performed at 10-12 weeks?

0.5-1% Signup and view all the answers

What does maternal serum analysis measure during genetic screening?

Decrease in factor associated with Edward syndrome (Trisomy 18) Signup and view all the answers

Which type of mutation results in changes to the nucleotide sequence of DNA in somatic cells?

Point mutation Signup and view all the answers

What type of mutation occurs when a base substitution changes an amino acid in a protein?

Nonsense mutation Signup and view all the answers

What is the effect of a deletion or insertion of one or more nucleotides that does not result in a multiple of 3?

Change in splicing sequence Signup and view all the answers

Which type of mutation causes a 'sense' codon to become a 'coding' codon?

Frame shift mutation Signup and view all the answers

What is the effect of reciprocal translocation between non-homologous chromosomes?

Formation of a single, large chromosome with a single centromere Signup and view all the answers

What causes an acrocentric chromosome to fuse into a single, large chromosome with a single centromere?

Robertsonian translocation Signup and view all the answers

What is the effect of duplication of a segment of chromosomes during DNA replication?

Alteration in gene expression level Signup and view all the answers

What is the effect of an intrinsic mutation between non-homologous chromosomes?

Mutational re-arrangement within a chromosome Signup and view all the answers

What is the effect of radiation or chemical exposure on genetic material?

Base substitution and breakage of DNA structure Signup and view all the answers

What is the cause of triploidy (3n) leading to miscarriage in most cases?

Polyploidy Signup and view all the answers

What is the effect of inversion leading to decreased binding of transcription factors and RNA polymerase to the promoter?

Decreased gene expression Signup and view all the answers

Prenatal Screening and Ultrasonography

Choose a study mode

Podcast

Questions and Answers