antenatal diagnosis

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Antenatal Diagnostics & Recent Advances in Assisted Reproduction : 

Antenatal Diagnostics & Recent Advances in Assisted Reproduction Monday 28 Dec 2009 Maha AL- Khaduri MD, FRCSC

Slide 2: 

ART IVF, ICSI, IVM, GIFT, ZIFT Embryo Cryopreservation Antenatal diagnosis Amniocentesis, CVS, Cordocentesis PGD Future Conciderations

Assisted Reproductive Technology : 

Assisted Reproductive Technology All treatments which include the handling of eggs and/or embryos ART accounts for 1 to 3 % of live births Applications Treat infertility Preserve fertility

ART cont. : 

ART cont. Live birth rate 40% (younger than 35 y) Factors associated with success  age infertility diagnosis past reproductive-obstetrical history. number of oocytes retrieved number of high quality embryos younger maternal age

In vitro fertilization (IVF) : 

In vitro fertilization (IVF) Ovarian stimulation Egg retrieval Fertilization Embryo culture Embryo transfer

Egg Retrieval : 

Egg Retrieval

Embryo : 

Embryo Unfertilized Oocyte

Embryo Transfer : 

Embryo Transfer

Intracytoplasmic Sperm InjectionICSI : 

Intracytoplasmic Sperm InjectionICSI

ICSI cont. : 

ICSI cont. Performed in 60% of ART cycles. Indicated for likelihood of reduced fertilization poor semen quality history of failed fertilization in a prior IVF cycle Pregnancy rates with ICSI are similar to traditional IVF. Genetic counselling is advisable before ICSI if inherited abnormalities are identified that may be passed from father to son.

In Vitro Maturation : 

In Vitro Maturation No ovarian stimulation. Immature oocytes. Major advantages is avoidance of The large doses of gonadotropins Associated high costs Risk of ovarian hyperstimulation syndrome Potential adverse effects on hormone-sensitive tissues . Development of the technique and assessment of its role in fertility treatment is ongoing.

Gamete Intrafallopian Transfer (GIFT) : 

Gamete Intrafallopian Transfer (GIFT) Gametes (egg and sperm) are transferred to the fallopian tubes rather than uterus Fertilization takes place in the tubes rather than in the lab. Laparoscopy is necessary to transfer the sperm and egg to the tubes.

GIFT cont. : 

GIFT cont. GIFT is an option only for women who have normal fallopian tubes. Some couples may consider GIFT for religious reasons because eggs are not fertilized outside the body. Fertilization can’t be confirmed as with IVF. Less than1% of ART procedures.

Zygote Intrafallopian Transfer (ZIFT) : 

Zygote Intrafallopian Transfer (ZIFT) Fertilization takes place in the lab rather than the fallopian tube. Fertilized egg is transferred to the tube rather than the uterus. Requires a laparoscopy. ZIFT comprises less than 1.5% of ART cases.

Indications for ART : 

Indications for ART Tubal factor- Tubal obstruction Ovulatory dysfunction (after failing treatment with less invasive therapies) Diminished ovarian reserve Endometriosis (after failing treatment with less invasive therapies) Severe male factor infertility Ovarian failure (Oocyte donation) Unexplained infertility (after failing treatment with less invasive therapies)

Disadvantages of ART : 

Disadvantages of ART The high cost The need for procedures and drugs associated with some risk to the woman Increased rate of multiple gestation Slight possible increase in fetal complications.

Embryo Cryopreservation : 

Embryo Cryopreservation Excess embryos can be cryopreserved for future use. In 2006, 15.9 % of ART procedures consisted of the patient's own frozen embryos.

Embryo Cryopreservation Cont. : 

Embryo Cryopreservation Cont. The rates of live birth per transfer frozen 27.7% fresh embryos 34 % 10 to 20 percent of embryos do not survive the thawing process due to subtle damage suffered by the embryo during the freezing and thawing process.

Embryo Cryopreservation Cont. : 

Embryo Cryopreservation Cont. There is no scientific basis for a maximum duration of storage. Children born after cryopreservation less likely to be born preterm and with a low birthweight than children born after fresh cycles had comparable malformation rates. Outcome data on growth, childhood morbidity, and mental development were limited, but with few differences between groups.

Prenatal diagnosis : 

Prenatal diagnosis Identifying structural or functional abnormalities—birth defects—in the fetus. This information can be used to provide appropriate counseling and optimize outcome. In some cases, fetal therapy can be used to improve the intrauterine environment.

Amniocentesis : 

Amniocentesis

Chorionic Villus Sampling (CVS) : 

Chorionic Villus Sampling (CVS)

Complications of Amniocentesis & CVS : 

Complications of Amniocentesis & CVS Similar complications Amniotic fluid leak & Chorioamnionitis infrequent Fetal injury rare Fetal loss 0.5% Amnio, 1% CVS

Cordocentesis/Fetal Blood Sampling : 

Cordocentesis/Fetal Blood Sampling

Preimplantation Genetic Diagnosis : 

Preimplantation Genetic Diagnosis Testing is performed to identify known heritable chromosomal abnormalities or gene mutations Indications Detection of single gene disorders  Detection of structural chromosomal disorders  Detection of aneuploidy Sex selection (Duchenne muscular dystrophy & hemophilia )

PGD Technique : 

PGD Technique Blastomere biopsy:   One or two blastomeres are removed from the embryo around the 8-cell stage at day 3 and tested for a specific genetic disease. Polar body biopsy (PBB) : obtaining fetal DNA for analysis is to remove one or both polar bodies Blastocyst biopsy : More cells could be obtained if biopsy could be performed on the developmental day 5 to 6 blastocyst

PGD Technique cont. : 

PGD Technique cont. Embryos that do not have the gene associated with the disease are selected for transfer to the uterus. The benefit is reducing the risk of having an affected child or terminating a pregnancy.

PGD Technique cont. : 

PGD Technique cont. Requires specialized equipment and experience and IVF. Two basic techniques are employed to analyze the genomic status of a blastomere: polymerase chain reaction (PCR) and fluorescent in situ hybridization (FISH).

PGD cont. : 

PGD cont. PGD can reduce the likelihood of conceiving a pregnancy with an affected child. it cannot eliminate the risk. Confirmation with chorionic villus sampling (CVS), amniocentesis or other testing is still necessary.

Future considerations : 

Future considerations Oocyte cryopreservation Recently experienced a surge in success rates. women have the option of saving their eggs if faced with possible loss of fertility due to Cancer chemo- or radiation therapy To bypass the age-related decline in fertility PGD has the potential to help couples eliminate lethal genes from the next generation.

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