Prenatal Diagnosis and Screening

This assignment requires analysis of various research papers focused on prenatal diagnosis and screening for Down syndrome. Papers cover topics like cost-sensitivity analysis of cfDNA screening, incidental diagnosis of other aneuploidies, implications for pregnant women with IBD, and cultural factors influencing decision-making. Additionally, the assignment delves into topics such as maternal hemoglobin changes during pregnancy, the impact of perfluoroalkyl chemicals on fertility, and the use of urine dipstick tests for infection screening.

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Activity1. 2 Factors to Consider Increasing Chances of Conceiving a Healthy Pregnancy
Ovulation is a very important process in the menstrual cycle for pregnancy to occur in a
female. This is the process whereby an ovum is released from the ovary to the fallopian tube
where it is fertilized by a male sperm during an intercourse (Verma et al, 2017). Ovulation
occurs 14 days before the commencement of the next cycle regardless of the length of the
menstrual cycle. Therefore, for women who have a 28 day cycle like Jane, their most fertile time
is at the mid-cycle period (Lum et al, 2017). Having an intercourse during this time or three days
before or after ovulation gives an ideal environment for conception to occur.
The lifespan of an unfertilized ovum is 12-24 hours. Within this time, the sperm should
fertilize it (Soon et al, 2014). Failure to fertilize the ovum within the stated time, it will die and
be absorbed in the fallopian tube by the cells lining it. The life span of a sperm in the female
reproductive tract is 72 hours; the best time for sexual intercourse in order to conceive is between
the 11th and the 14th day of a regular 28-day cycle (Verma et al, 2017). Age is also a major factor
in pregnancy. A woman is very fertile between 13- 35 years of age and her fertility reduces with
time up to 45 years. It is therefore, advisable to try and get pregnant before the specified years
elapse for them.
Keeping a temperature chart or the use of an ovulation kit as Jane and John do is advised
for a couple who find it difficult to conceive. After ovulation, the body temperature always rises
slightly, usually around 0.2ᵒC (Soon et al, 2014). Therefore, monitoring of the body temperature
is key in determining the occurrence of ovulation. An ovulation kit can also be used to measure
the level of hormones of the menstrual cycle in the urine and thus can help predict ovulation
(Friedman, 2017). A couple that is undergoing fertility investigation should avoid smoking in

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order to conceive a healthy baby. Nicotine is a major factor in infertility and thus it is advisable
to give up the intake of any substance with nicotine when planning to get pregnant.
The frequency of sexual intercourse is also a determinant of the ease to conceive. If
sexual intercourse takes place 3 to 4 times a week, there will always be presence of live sperms
in the fallopian tube (Lum et al, 2017). This increases the chances of fertilization when ovulation
occurs. On the other hand, having sexual intercourse once a week lowers the chances of
fertilization since ovulation may be missed. Further, emotional factors also take the toll on
fertility especially for the female. These factors include stress, overwork, strain, pressure in
work. The production of adrenalin during stress inhibits the utilization of the progesterone
hormone, which is significant in fertility (Verma et al, 2017). The presence of adrenalin also
causes the release of high levels of prolactin by the pituitary gland which is also a cause of
infertility. It is therefore, advisable for John and Jane like any other couple to avoid stressful
situations in their attempt to have a baby.
Blood tests for assessment of maternal wellbeing
Low Hemoglobin in Pregnancy
An expecting mother usually faces challenges that they have to overcome during
pregnancy. Some of these challenges are health issues among which there is the issue of the level
of hemoglobin of the blood. Hemoglobin is the protein found in the red blood cells (RBCs) that
carries oxygen from the lungs to other tissues of the body and also carbon dioxide from other
body tissues to the lungs (Jwa et al, 2015). The normal level of hemoglobin for women is
between 12 to 16 g/dl.
Causes

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During pregnancy, it is normal for the hemoglobin level to drop. This is due to increase in
blood volume by 50% in order to provide essential nutrients for the fetus. Increase in the blood
volume begins in the 8th week of pregnancy (Jwa et al, 2015). The drop of hemoglobin can
always go up to 10.5g/dl causing mild anemia. Low hemoglobin can cause dizziness, shortness
of breath at rest, pale lips and skin, increased heart rate and brittle nails. Further drop in the level
of hemoglobin below 6d/dl in an expectant mother according to Shinar & Maslovitz (2017) may
result to angina due to low supply of blood to the heart.
Treatment and Management
Screening for hemoglobin level should be done at first antenatal visit to determine the
levels and also the concentration of ferritin (Shinar & Maslovitz, 2017). During pregnancy, low
hemoglobin can easily be treated by adding iron and vitamin supplements on a daily routine.
However, in severe cases which are usually rare, there may be need for blood transfusion.
Screening of hemoglobin and ferritin should be continued in the second and the third trimester
visit and treated appropriately.
Serum ferritin of women with known hemoglobinopathy should be checked and if low,
they should be given iron supplements. Women whose iron-deficiency has been established
should be offered 100-200 mg of iron element daily (Shinar & Maslovitz, 2017). They should be
advised on how to correctly administer to optimize absorption. Vitamin C increases the rate of
absorption and thus the pregnant women are advised to take foods rich in it. These foods include
citrus fruits and juices, oranges, tomatoes, strawberries and kiwis. Preventing low hemoglobin
during pregnancy is possible and necessary. One can do this through making changes in the diet.
It is recommended that a pregnant woman eat at least 30mg of iron every day. The foods rich in

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iron include lean, red meats, eggs, leafy green vegetables; spinach, broccoli, beans and lentils
and nuts.
6.2 Antenatal screening
Antenatal screening is done for pregnant mothers in order to identify those at high risk of
disorders. Screening helps determine those at high risk in order to offer prenatal diagnosis.
Screening is not replaced with diagnosis but rather helps in making informed decisions
(Harcombe & Armstrong, 2008). These decisions include whether or not to be screened, the
specific disorders to be screened, after screening and identified to be at high risk whether to go
for prenatal diagnosis and if the pregnancy is affected, the further decisions that should be made;
termination of pregnancy(Pilnick & Zayts, 2011). Antenatal screening tests that can be done
today are for Down’s syndrome, fragile X syndrome, cystic fibrosis and spinal muscular atrophy.
Down’s syndrome Screening
Down’s syndrome commonly causes intellectual disability which varies in degree. People
with Down’s syndrome present medical conditions like poor tongue control, dry skin, sinuses
infection and slow feeding (Habib, 2011). Some may have heart defects though many people
with the syndrome enjoy a healthy life. Down’s syndrome results from chromosomal anomaly
where there is, an extra number of chromosomes; instead of being 46 they are 47 (Cuckle at la,
2013). This is due to an error in cell division egg production. In the past, identifying a high risk
group was through advanced maternal age or if there is a previous case of Down’s syndrome
during pregnancy. Currently, a blood test or ultrasound examination is done and are more
effective. It involves measuring chemicals in the blood of the mother or structures viewed on
ultrasound. These are referred to as ‘markers’ (Davis et al, 2014). These markers include nuchal

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translucency, free-beta HCG, HCG, Inhibin A, nuchal skinfold, Alpha-fetoprotein, nasal bone
length, nasal bone absence, pregnancy associated plasma protein and prenasal translucency.
Among the advantages of screening for Down’s syndrome is that it helps assess the
chances of the baby having the condition (Habib, 2011). This can help decide on having invasive
diagnostic tests to give assurance of the baby’s condition and also prepare the parents if they
want to keep the baby and if so to prepare on raising the child (Cuckle at la, 2013). In regard to
disadvantages first, the screening is does not indicate specifically the presence of Down’s
syndrome but rather calculates the likelihood. Further, the diagnostic tests are more definitive but
pose a risk to the mother and the baby during the pregnancy because they are invasive.
Main issues from the analysis
 To perform the screening there has to be informed consent. The woman should be well
informed of the screening test in terms of the procedures, the requirements, the possible
outcomes, the next steps depending on the outcome, the advantages and the risks that
come with the screening and further diagnosis. This will help the mother to make
informed decisions in taking up the screening tests.
 The midwife has to ensure confidentiality. The midwife should always keep private the
information of the patient concerning health matters.
 The test should be carried out in every trimester of the pregnancy. This helps in
monitoring the pregnancy to be able to detect any disorders before the baby is born.
7.2.2 Urine Dipstick Test Analysis
This is a rapid pregnancy test done during every prenatal visit. It is convenient as it
ascertains results in a few minutes after collecting the urine sample. The urine sample is

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collected in a sterile container. Using a fresh sterile syringe, a small volume of urine from the
container is removed and placed on the dipstick which is then held horizontally before reading
(Asadzadeh, 2017). Common color outcomes are brown, green, blue, orange, red and yellow. It
is taken to check on the sugar level, protein, ketones and blood cells or bacteria.
Sugar levels are monitored during pregnancy in this test. Low sugar level in the urine is
considered normal during pregnancy. When the level rises during the prenatal visits, it is likely
to be a sign of gestational diabetes and further glucose tests are likely to be done (Cho, et al,
2014). During pregnancy, the body naturally becomes resistant to insulin to provide more
glucose to nourish the baby. When insulin production cannot keep up with the demand by the
glucose in the mother’s body, the blood sugar level goes high causing gestational diabetes. The
condition is not permanent as it is likely to end as soon as the baby is born. To reduce the
chances of having gestational diabetes, one should adopt a healthy lifestyle like maintaining a
balanced diet and doing regular physical exercise.
Presence of excess proteins in the blood could be a sign of urinary tract infection or
kidney damage. If the mother has high blood pressure too during the pregnancy, chances are that
it could be preeclampsia (Asadzadeh, 2017). If the blood pressure is normal, the sample could be
taken to the laboratory for further analysis. Preeclampsia happens mostly after the 20th week of
pregnancy. If it is mild, it could be managed by getting bed rest, reducing salt intake, drinking a
lot of water and regularly visiting the doctor (Yeung & Wong, 2009). If serious, one can be
admitted for thorough monitoring to reduce the blood pressure or give steroid injections to help
quick development of the baby’s lungs.
Ketones can also be found in the urine in the dipstick test. When there are not enough
carbohydrates in the body, the body begins to breakdown stored fat in the body to provide energy

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(Cho, et al, 2014). This maybe accompanied with nausea, weight loss, vomiting. Urine test may
indicate the presence of ketones in the urine. If high sugar is found as well, it could be a sign of
diabetes. The presence of ketones in the urine is referred to as acetonuria. This leads to
dehydration in the body and also metabolic disturbance which can provoke miscarriage or cause
premature birth (Asadzadeh, 2017). Treatment of acetonuria depends on the cause to determine
its management. Necessary medication and intravenous fluids will be given and healthy eating
recommended. Sorbents can also be prescribed to reduce intoxication.
The white blood cells produce certain enzymes while certain bacteria produce nitrites in
the presence of an infection (Yeung & Wong, 2009). When these chemicals are found in a urine
sample, it could be a sign of urinary tract infection (UTI) and further tests can be done in the lab
to confirm the infection (Cho, et al, 2014). UTI occurs when a bacteria infects the urethra and is
more common in females due their anatomy. It is characterized by frequent urination, burning
urination, feeling the urge to urinate frequently, pelvic pain and fever. UTI during pregnancy are
treated by administering antibiotics as prescribed by a physician. To prevent UTI, it is important
for a woman to empty her bladder before and after sex, wearing only cotton underwear, drinking
plenty of water to prevent dehydration and avoid washing the genitalia with harsh soaps.

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References
Asadzadeh, L. (2017). Compare Urine Culture and Urinalysis Test (Microscopic, Nitrite and
Leukocyte Esterase Dipstick Test) In the Diagnosis of Urinary Tract Infection. World
Journal of Pharmaceutical Research, 1-11.
Cho, M., Ji, M., Kim, S., Choe, W., Lee, W., Chun, S., & Min, W. (2014). Evaluation of the
URiSCAN Super Cassette ACR Semiquantitative Urine Dipstick for Microalbuminuria
Screening. Journal Of Clinical Laboratory Analysis, 28(4), 281-286.
Cuckle, H., Benn, P., & Pergament, E. (2013). Maternal cfDNA screening for Down syndrome -
a cost sensitivity analysis. Prenatal Diagnosis, 33(7), 636-642.
Davis, C., Cuckle, H., & Yaron, Y. (2014). Screening for Down syndrome - incidental diagnosis
of other aneuploidies. Prenatal Diagnosis, 34(11), 1044-1048.
Friedman, S. (2017). Pregnancy and IBD: Timing Is Everything. Digestive Diseases And
Sciences, 62(8), 1847-1849.
Habib, F. (2011). Antenatal Screening Strategies for Down Syndrome: Analysis of Existing
Protocols and Implications in the Kingdom of Saudi Arabia. British Journal Of Medicine
And Medical Research, 1(3), 105-121.
Harcombe, J., & Armstrong, V. (2008). Antenatal Screening. The UK NHS Antenatal Screening
Programmes: Policy and Practice. Innovait: Education And Inspiration For General
Practice, 1(8), 579-588.
Jwa, S., Fujiwara, T., Yamanobe, Y., Kozuka, K., & Sago, H. (2015). Changes in maternal
hemoglobin during pregnancy and birth outcomes. BMC Pregnancy And
Childbirth, 15(1).

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Lum, K., Sundaram, R., Barr, D., Louis, T., & Buck Louis, G. (2017). Perfluoroalkyl Chemicals,
Menstrual Cycle Length, and Fecundity. Epidemiology, 28(1), 90-98.
Mechery, J., Abidogun, K., Crosfill, F., & Jip, J. (2012). Hyperhemolysis Syndrome
Complicating Pregnancy in Homozygous δβ-Thalassemia. Hemoglobin, 36(2), 183-185.
Naik, D. (2017). A Study of Dipstick and Microscopic Analysis of Formed Elements in
Urine. Journal Of Medical Science And Clinical Research, 05(04), 20485-20488.
Pilnick, A., & Zayts, O. (2011). ‘Let’s have it tested first’: choice and circumstances in decision-
making following positive antenatal screening in Hong Kong. Sociology Of Health &
Illness, 34(2), 266-282.
Shinar, S., & Maslovitz, S. (2017). 638: Is low hemoglobin consistent with anemia in
pregnancy?. American Journal Of Obstetrics And Gynecology, 216(1), S373.
Soon, R., Elia, J., Beckwith, N., Kaneshiro, B., & Dye, T. (2014). Cultural factors affecting
attitudes toward pregnancy and pregnancy planning among native
Hawaiians. Contraception, 90(3),342.
Verma, P., Singh, K., & Singh, A. (2017). Pregnancy risk during menstrual cycle:
misconceptions among urban men in India. Reproductive Health, 14(1).
Yeung, K., & Wong, T. (2009). Value of the urine dipstick test for leukocytes in screening for
urinary tract infection. Emergency Medicine, 4(2), 73-75.