Pregnancy

Pregnancy

Product of Conception- Miscarriage doesn’t mean you can’t have a healthy pregnancy

The term “product of conception” (POC) refers to the tissue that results from the fertilization of an egg by a sperm. This tissue includes the developing embryo, placenta, and any associated extra-embryonic membranes.

POC is a term used to describe the tissue that is formed after fertilization and that develops into the fetus, placenta, and membranes. The term is commonly used in obstetrics and gynecology to refer to the tissue that is expelled or removed from the uterus during a miscarriage, or from a dilation and curettage (D&C) procedure.

During a miscarriage, the POC is expelled from the uterus and can be examined to determine the cause of the miscarriage and to rule out any abnormalities. In case of D&C, the procedure is performed to remove the POC from the uterus if it is not completely expelled.

It is worth noting that the term POC is also used in the context of prenatal diagnosis, where it refers to the sample of cells collected by chorionic villus sampling (CVS) or amniocentesis, which are used to diagnose chromosomal or genetic disorders.


NIPS- Your first check post for ensuring a healthy pregnancy


Non-Invasive Prenatal Screening (NIPS) is a type of prenatal test that uses a small sample of the mother’s blood to detect chromosomal abnormalities in the developing fetus. It is typically offered to pregnant women who are at an increased risk of having a baby with certain chromosomal conditions, such as Down syndrome, but it should be offered to all pregnant women regardless of their risk factors.

NIPS can be performed as early as 10 weeks of pregnancy and can detect chromosomal abnormalities such as Down syndrome, Edwards syndrome and Patau syndrome. It can also detect some microdeletions syndromes such as DiGeorge, Prader Willi, Angelman, and Cri du Chat.


The benefits of NIPS include:


It is a non-invasive test that does not carry the risks associated with invasive prenatal diagnostic tests such as amniocentesis and chorionic villus sampling (CVS)
It can be performed early in pregnancy, which allows for earlier detection of chromosomal abnormalities and more time for couples to make informed decisions about their pregnancy

It is highly accurate, with detection rates of greater than 99% for certain chromosomal abnormalities.

Indications:

 
Advanced maternal age- NIPS can be useful for women who are 35 years or older, even if they are not considered to be at an increased risk of chromosomal abnormalities. This is because these women may have a higher chance of miscarriage or other complications during pregnancy, and an early diagnosis of a chromosomal abnormality can help them make more informed decisions about their care.

An abnormal serum screen- Non-Invasive Prenatal Screening (NIPS) can be used in conjunction with other prenatal screening tests, such as serum screening, to help identify women who are at an increased risk of having a baby with chromosomal abnormalities.


If a woman receives an abnormal result on a serum screening test, such as a positive result on a first or second trimester screening, her healthcare provider may recommend NIPS as a follow-up test. This is because NIPS can provide more detailed and accurate information about the risk of chromosomal abnormalities, including Down syndrome, Edwards syndrome, and Patau syndrome, than traditional serum screening tests alone.

Personal or family history of aneuploid- Non-Invasive Prenatal Screening (NIPS) can be used for women who have a personal or family history of aneuploidy, which is an abnormal number of chromosomes in a cell. Aneuploidy can lead to chromosomal disorders such as Down syndrome, Edwards syndrome, and Patau syndrome.


Women with a personal or family history of aneuploidy may be at an increased risk of having a baby with a chromosomal disorder, and NIPS can provide important information about the risk of chromosomal abnormalities in the developing fetus. This can help couples make more informed decisions about their pregnancy and prepare for the potential outcomes.


Abnormal ultrasound- An abnormal result on an ultrasound is an indication of a possible chromosomal disorder or structural abnormality. NIPS can provide more detailed and accurate information about the risk of chromosomal abnormalities and can help in identifying possible chromosomal disorder or structural abnormality.


Chromosomal Microarray- Mark your pregnancy safe from Day 1

Chromosomal microarray (CMA) is a genetic test that can detect chromosomal abnormalities that may not be visible with traditional karyotyping. It is a type of genetic testing that examines all of the chromosomes in a person’s DNA in order to detect missing or extra pieces of DNA, called copy number variations (CNVs).
CMA is a more sensitive test than traditional karyotyping, and can detect a wide range of chromosomal abnormalities, including small deletions or duplications of DNA that may not be visible with traditional karyotyping. It can also detect structural abnormalities of chromosomes.
CMA can be used for prenatal, postnatal or preimplantation genetic diagnosis (PGD) and can be performed on blood, amniotic fluid, chorionic villi or preimplantation embryos.


The benefits of CMA include:

  • Increased detection rate of chromosomal abnormalities compared to traditional karyotyping
  • Can detect smaller chromosomal abnormalities that may not be visible with traditional karyotyping
  • It can also detect submicroscopic imbalances and structural abnormalities which are not visible on karyotyping.
  • It can also detect gene-specific copy number variations that may be associated with a specific genetic disorder.
  • It can also be used for carrier testing for specific genetic disorders
  • Chromosomal Microarray (CMA) is a genetic test that can detect chromosomal abnormalities that may not be visible with traditional karyotyping. It is used to detect missing or extra pieces of DNA, called copy number variations (CNVs) and structural abnormalities of chromosomes. Indications for CMA include:
  • Prenatal testing: CMA can be used to detect chromosomal abnormalities in a developing fetus, it can be performed on a sample of the mother’s blood, amniotic fluid, chorionic villi or the placenta. It can detect a wide range of chromosomal abnormalities, including small deletions, duplications and structural abnormalities of chromosomes.
  • Postnatal diagnosis: CMA can be used to diagnose chromosomal abnormalities in newborns and children, it can be performed on a sample of blood, buccal swab or hair root.
  • Preimplantation genetic diagnosis (PGD): CMA can be used to detect chromosomal abnormalities in embryos before they are implanted into the uterus, this is particularly useful for couples who are at a high risk of having a baby with a chromosomal abnormality or a genetic disorder.
  • Carrier testing: CMA can be used to detect copy number variations that may be associated with a specific genetic disorder, this is particularly useful for families with a history of a specific genetic disorder or for couples who are at a high risk of having a baby with a genetic disorder.
  • Recurrent miscarriage: CMA can be used to detect chromosomal abnormalities in couples who have had recurrent miscarriages.
  • Recurrent implantation failure or recurrent IVF failure: CMA can be used to detect chromosomal abnormalities in couples who have had recurrent implantation failure or recurrent IVF failure.
  • Poor quality embryos or poor ovarian reserve: CMA can be used to detect chromosomal abnormalities in couples who have had poor quality embryos or poor ovarian reserve.


QF- PCR- Plan your safe pregnancy

QF-PCR (Quantitative Fluorescent Polymerase Chain Reaction) is a genetic testing method that is used to detect and quantify specific DNA sequences in a sample. It is a type of PCR (Polymerase Chain Reaction) that uses fluorescent dyes to label the amplified DNA, allowing for detection and quantification of the target DNA sequence.


QF-PCR is commonly used for a variety of genetic applications, including:


  • Prenatal testing for chromosomal abnormalities, such as Down syndrome or trisomy 18
  • Carrier testing for genetic disorders, such as cystic fibrosis or sickle cell anemia
  • Detection and quantification of viral DNA, such as in the case of HIV or hepatitis
  • Detection and quantification of bacterial DNA, such as in the case of tuberculosis
  • Detection and quantification of cancer-associated mutations in genes, such as in the case of BRCA1 and BRCA2 gene mutations.
  • QF-PCR (Quantitative Fluorescent Polymerase Chain Reaction) is a genetic testing method that is useful for a variety of couples depending on their specific situation.


– Couples who are at a higher risk of having a baby with a chromosomal abnormality, such as couples who are older, have a family history of chromosomal abnormalities, or have had abnormal results on prenatal screening tests, may benefit from QF-PCR as a prenatal testing option. It can be used to detect and quantify specific DNA sequences associated with chromosomal abnormalities, such as Down syndrome or trisomy 18.


– Couples who are at a higher risk of having a baby with a genetic disorder, such as couples who have a family history of a genetic disorder or are carriers of a genetic disorder, may benefit from QF-PCR as a carrier testing option. It can be used to detect and quantify specific DNA sequences associated with genetic disorders, such as cystic fibrosis or sickle cell anemia.


– Couples who have had recurrent miscarriages or recurrent implantation failure may benefit from QF-PCR as a way to detect chromosomal abnormalities or genetic disorders that may be associated with these conditions.