3. Without knowledge gained by prenatal diagnosis,
there could be an untoward outcome for the fetus or
the mother or both. Congenital anomalies account for
20 to 25% of perinatal deaths.
4. AIMS OF FETAL MONITORING.
To ensure satisfactory growth and well-being of the fetus throughout pregnancy.
To screen out the high-risk factors that affect the growth of the fetus.
To detect those congenital abnormalities or inborn metabolic disorders during early
pregnancy.
5. COMMON INDICATORS FOR ANTEPARTUM FETAL MONITORING.
Pregnancy with obstetric complications.
Pregnancy with medical complications.
Routine antenatal testing.
8. BIOPHYSICAL-
It is a screening test for utero- placental insufficiency. The fetal biophysical activities are
initiated, modulated and regulated through fetal nervous system. The fetus CNS is very
much sensitive to diminished oxygenation. Hypoxia metabolic acidosis CNS depression
changes in fetal biophysical activity.
9. CYTOGENETIC-
The study of chromosome and the related disease states caused by abnormal
chromosome number and structure. It is a convincing investigation along with clinical
suspicion and biochemical screening tests.
10. Biochemical markers are used to assess maternal,
placental and fetal health.
They help to diagnose and monitor maternal conditions
such as gestational diabetes and pre-eclampsia,
trophoblastic disease and fetal chromosomal abnormalities
such as Down's syndrome .
These biochemical and hormonal tests constitute only one
aspect of obstetric care. They should be used together with
clinical findings and imaging, particularly
ultrasonography.
11. MATERNAL Gestational diabetes Glucose screening tests at
24-28 weeks: 50 g
challenge test
or
2-hour 75 g oral glucose
tolerance test
Pre-eclampsia 1. Urinary protein (by
dipstick testing or formal
quantitation)
2. Serum uric acid
3. Renal function tests
4. Full blood count (for Hb
concentration and platelet
count)
12. PLACENTAL Trophoblastic disease*
(hydatidiform mole or
choriocarcinoma)
1. HCG
2. Free β-HCG
3. Urinary HCG when
indicated
Down's syndrome
• Maternal serum alpha fetoprotein, HCG, pregnancy-
associated plasma protein-A, and transnuchal ultrasound
between 11 and 13 weeks gestation
• Maternal serum alpha fetoprotein, HCG, pregnancy-
associated plasma protein-A, and serum unconjugated
oestriol in various combinations between 15 and 18
weeks gestation
FETAL
14. MEANING OF BIOCHEMICALASSESSMENT.
Biochemical assessment involves biologic examination (e.g.. as chromosomes in
exfoliated cells) and chemical determinations (e.g.. lecithin/ sphingomyelin [L/S] ratio,
surfactant/ albumin [S/A] ratio (TDX FLM assay), and bilirubin level).
Procedures used to obtain the needed specimens include amniocentesis, percutaneous
umbilical blood sampling, chorionic villus sampling, and maternal sampling.
15. UE3 (UNCONJUGATED ESTRIOL)
Unconjugated estriol at first studied by Canick and co-
workers, shows a correlation between low uE3 and
trisomy 21, with a high level of correlation between AFP
and uE3 .
Estriol (E3) is a dominant estrogen during pregnancy,
and is secreted mainly by the placenta. E3 tests of
placental or feto-placental function are widely used in
high-risk pregnancies to predict adverse fetal outcome.
16. E3 of fetal origin originates exclusively from the 16-
hydroxylation of either dehydroepiandrosterone
(DHEA) or DHEA sulfate (DHEAS) in the fetal liver,
and is metabolized by steroid sulfatase in the
placenta. DHEA undergoes aromatization by the
aromatase enzyme (CYP19) in the
syncytiotrophoblasts of the placenta as blood flows
from the conceptus to the mother . Due to the
hemochorial nature of the placenta, more than
90% of estriol enters the maternal circulation.
PRODUCTION AND REGULATION
17. USEFUL FOR:
A part of second trimester or cross-trimester biochemical screening for down syndrome and
trisomy 18 syndrome.
It is a marker of fetal demise.
Evaluating primary or secondary fetal adrenal insufficiency after excluding other rare single
gene defects, including aromatase deficiency, 17 alpha-hydroxylase deficiency and/ or various
forms of congenital adrenal hyperplasia.
Method name: immune enzymatic assay.
Specimen: serum.
18. CLINICAL INFORMATION
Estrogens are involved in development and maintenance of the female phenotype,
germ cell maturation, and pregnancy. There are 3 major biologically active estrogens in
humans: estrone (El), estradiol (E2), and estriol (E3).
The half-life of unconjugated uE3 in the maternal blood system is 20 to 30 minutes
since the maternal liver quickly conjugates E3 to make it more water soluble for urinary
excretion. E3 levels increase throughout the course of pregnancy, peaking at term.
Decreased second trimester ulE3 has been shown to be a marker for down and trisomy-
18 syndromes.
uE3 is a part of multiple marker prenatal biochemical screening, together with alpha-
fetoprotein (AFP), human chorionic gonadotrophin (Hcg) and inhibin- A measurements.
Low levels of uE3 also have been associated with pregnancy loss. Clinical value of fetal
death marker
19. This marker is a vital element in the diagnosis of steroid metabolic disorders during
pregnancy and can be a sign of disorders such as:
1- Smith-Lemli-Opitz Syndrome
2. X-linked ichthyosis, which is found mainly in male fetuses.
3. Contiguous gene syndrome, also called placental sulfatase deficiency disorders.
4- aromatase deficiency
5- primary or secondary fetal adrenal insufficiency
6- Trisomy 18 (as a reduction)
7- and various types of congenital adrenal hyperplasia (including corticosteroid therapy in the
mother)
8- Its low levels are seen in major neurological disorders such as anencephaly.
21. Reference value:
Male: <0.07 ng/mL
Female: <0.08 ng/ml
INTERPRETATION:
High levels of this hormone or its sudden increase (CMoM> 3.0) indicate early childbirth
(pending labor).This increase is seen approximately four weeks before the onset of labor,
which is a more accurate indicator than clinical evaluation. As a result, it is used to assess
the risk of preterm labor risk.
A low uE3 level can indicate the possibility of aromatase deficiency, congenital adrenal
hyperplasia, primary or secondary (including maternal corticosteroid therapy) fetal
adrenal insufficiency and/or fetal demise.
22.
23. ALPHA-FETOPROTEIN SCREENING.
Alpha-fetoprotein (AFP) is the main protein in fetal plasma. It diffuses from fetal plasma into
fetal urine and is excreted into the amniotic fluid. Some AFP crosses placental membranes
into the maternal circulation. Therefore, AFP can be measured both in MSAFP and in
amniotic fluid (AFAFP). Abnormal concentrations of AFP are associated with serious fetal
anomalies, requiring additional testing to determine the reason for the abnormal
concentration.
24.
25. Pregnant women should be offered MSAFP screening. Ideally between 16 and 18 weeks of
gestation.
The mother is informed that MSAFP is a screening test rather than a diagnostic test. Further
tests will be indicated to investigate abnormal concentrations.
If MSAFP levels are abnormal, ultrasonography is recommended initially to determine
whether the abnormal concentrations is caused by multifetal gestation, inaccurate gestational
age, or fetal death.
28. ADVANTAGES:
It is a simple procedure that requires only a sample of maternal blood. It is the least
invasive and most economic procedure to screen for an open body wall defect such as
neural tube defect or for chromosome abnormality.
Prenatal diagnosis allows parents time to examine their options or to prepare for the
birth of an infant who will need special care.
29. Limitations:
Benign conditions, such as inaccurate estimation of gestation age, can result in
apparently abnormal levels, causing the parents greater anxiety and expense if
follow up tests are indicated.
Timing imposes limits. Evaluation is best performed between 16 and 18 weeks of
pregnancy, but many women do not seek prenatal care until well after the 18 week,
thus limiting their options.
Because closed defects that are covered by skin do not produce elevated levels of
AFP, normal levels of AFP do not guarantee that the baby will be free of structural
anomalies.
32. The most common open neural tube defects are
anencephaly, in which the cranial vault is absent and
most of the brain is undeveloped, and spina bifida,
which has a wide range of severity.
33. LOW LEVELS OFAFP:
1. Chromosomal trisomies (e.g., down syndrome)
2. Gestational trophoblastic disease.
3. Normal fetuses in conjunction with the following:
Overestimation of gestational age.
Incorrect maternal weight (higher than true weight).
34.
35. Useful for:
Diagnosing open neural tube defects and, to a lesser
degree, ventral wall defects.
Method name: polyacrylamide electrophoresis.
Specimen: amniotic fluid.
36. REFERENCES VALUES:
Negative (reported as negative [normal] or positive [abnormal] for inhibitable
acetylcholinesterase).
Raised levels (greater than or equal to 4.5 munits/ml) of acetylcholinesterase (AChE)
activity in amniotic fluid at 14--23 weeks of pregnancy were significantly associated with
open fetal neural-tube defects.
INTERPRETATION:
The presence of acetylcholinesterase in amniotic fluid is consistent with open neural tube
defects and, to a lesser degree, ventral wall defects.
37. Neural tube defects can be distinguished from other fetal defects (such
as abdominal wall defects) by use of the acetylcholinesterase test
performed on amniotic fluid obtained by amniocentesis.
If the acetyl cholinesterase is elevated along with AFP then a neural tube
defect is likely.
If the acetyl cholinesterase is not detectable, then some other fetal defect
is suggested.
38. When NTD is suspected based upon maternal serum alpha-fetoprotein (AFP) screening
results or diagnosed via ultrasound, analysis of AFP and acetylcholinesterase (AchE) in
amniotic fluid are useful diagnostic tools. AChE is primarily active in the central
nervous system with small amounts of enzyme found in erythrocytes, skeletal muscle,
and fetal serum. Normal amniotic fluid does not contain AChE. unless contributed by
the fetus as a result of an open NTD.
42. NURSINGCARE FORTHE CLIENTWHOHASDIAGNOSTICTESTING.
ASSESSMENT:
Nurses collect information that is important to conducting the diagnostic tests or that is helpful
to the physician interpreting the results. Necessary information includes:
Gravida, para, living children, gestation in weeks.
Maternal health problems (hypertension, diabetes, heart disease).
Current obstetric problems (vaginal bleeding, decreased fetal movement, multifetal
gestation, intrauterine growth restriction, malpresentation, hydramnios, oligohydramnios,
preeclampsia).
Prior obstetric problems (birth of stillborn infant or infant with congenital anomalies.
Birth of a low birth weight or large for gestational age infant.
History of substance abuse, including alcohol and tobacco.
43. NURSING DIAGNOSIS AND PLANNING:
The following nursing diagnosis is common when a woman requires fetal diagnostic
testing:
Anxiety related to lack of knowledge of diagnostic
procedures and the uncertain condition of the fetus.
44. INTERVENTIONS
Providing information:
Provide the woman and her family simple, clear explanations of what the test assesses and the
purpose and frequency of any tests. Tell them how long the test takes, and describe the testing
procedure to reduce anxiety caused by lack of knowledge. Some tests require teaching about
follow-up care and events that the mother should report to the health care team.
The nurse should remind the woman that the other factors may cause abnormal results
Abnormal results from tests such as MSAFP usually result in anxiety for the woman.
45. Providing support:
Identify and respond to feelings expressed by parents when antepartum testing procedures
are recommended or when fetal problems are confirmed. The woman often experiences
frustration with the discomfort, limitations, and time-consuming demands of the pregnancy
and the regimen of repeated fetal testing. Skill in therapeutic communication is never more
important than when counselling about fetal diagnostic tests.
Active listening conveys interest and concerns.
Paraphrasing allows for interpretation because it expresses in different words that
concerns the family. Reflecting what is expressed about feelings helps the family "hear"
their feelings.
Clarifying helps prospective parents "see" the issues and what opinions are available.
46. HELPING CLIENTS SET REALISTIC GOALS.
Women benefit from understanding how prenatal diagnostic testing benefits the fetus.
Although the repeated tests may seem tedious, they often offer the best chance for the fetus to be
delivered at the best possible time. Explain that testing helps the perinatal team decide whether
intervention is needed and choose the best possible intervention under the circumstances. The fetus
has an improved chance of surviving and reaching maturity of test results remain reassuring.
If the woman is testing to identify fetal abnormalities, help her understand that a baseline risk for
abnormalities remains when tests show the fetus is normal. Even if performed all diagnostic tests
for birth defects on a woman were possible, the background risk would remain.
47. SUPPORTINGTHEWOMAN'SDECISION:
Prenatal genetic diagnosis sometimes leads a woman to choose pregnancy termination,
often during the second trimester. The woman also has the right to indicated prenatal
genetic diagnostic procedures even if she would not terminate her pregnancy for an
abnormal fetus.
Nurses must examine their own ethical beliefs before becoming involved in fetal
diagnostic testing. They must be prepared to support whatever decision a family makes,
even if it is not one, they would make. A woman who decides to continue or terminate a
pregnancy is entitled to compassionate care regardless of the nurse's personal views about
her decision.
48. JOURNALS:
Is MSAFP still a useful test for detecting open neural tube defects and ventral wall defects
in the era of first-trimester and early second-trimester foetal anatomical ultrasounds?
In this study conducted by Ashley S Roman to evaluate whether maternal serum a-fetoprotein
(MSAFP) improves the detection rate for open neural tube defects (ONTDs) and ventral wall
defects (VWD) in patients undergoing first-trimester and early second-trimester foetal
anatomical survey where a cohort of women undergoing screening between 2005 and 2012
was identified. All patients were offered an ultrasound at between 11 weeks and 13 weeks and
6 days of gestational age for nuchal translucency/foetal anatomy followed by an early second-
trimester ultrasound at between 15 weeks and 17 weeks and 6 days of gestational age for fetal
anatomy and MSAFP screening. All cases of ONTD and VWD were identified via query of
billing and reporting software. Sensitivity and specificity for detection of ONTD/VWD were
calculated, and groups were compared using the Fisher exact test, with p < 0.05 as significance.
49. A total of 23.790 women met the criteria for inclusion. Overall, 15 cases of ONTD and 17
cases of VWD were identified; 100% of cases were diagnosed by ultrasound prior to 18
weeks' gestation; none were diagnosed via MSAFP screening (p < 0.001) First-trimester and
early second-trimester ultrasound had 100% sensitivity and 100% specificity for diagnosing
ONTD/VWD.
Lastly the study concluded ultrasound for foetal anatomy during the first and early second
trimester detected 100% of ONTD/VWD in our population. MSAFP is not useful as a
screening tool for ONTD and VWD in the setting of this ultrasound screening protocol.
50. BIBLIOGRAPHY:
1. McKinney Emily Stone, James Susan Rowen, Murray Sharon Smith, Ashwill Jean Weiter. Maternal- child Nursing. 3
(1d) Edition. Missouri. Saunders, an imprint of Elsevier Inc. 2009
2. Lowdermilk, Perry, Cashion, Alden. Maternity and Women's Health Care. 10th Edition. Riverport Lane St. Louis.
Mosby, Inc., an affiliate of Elsevier Inc. 2012
3. Gilbert Elizabeth Stepp. Manual of High-Risk Pregnancy and Delivery. 5th Edition. Missouri. Mosby, Inc., an affiliate
of Elsevier Inc., 2011
4. Konar Hiralal. DC Dutta's Textbook of Obstetrics. 8th Edition. New Delhi. Jaypee Brothers Medical Publishers (P) Itd.
2015
JOURNALS REFERENCE:
1. Roman Ashley S et al. Is MSAFP still a useful test for detecting open neural tube defects and ventral wall defects in the
era of first- trimester and early second trimester fetal anatomical ultrasound? Fetal Diagn Ther. 2015; 35 (3): 206-10.